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 ABCG8 0 genome.wustl.edu 37 2 44071747 44071747 + Silent SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 2 44071747 44071747 G A SNP ABCG8 ENST00000272286 human ensembl 69_37n +1 known silent c.165 p.Q55 1.000 pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 32 0 0.00 14 12 46.15 - - - ADAMTS16 0 genome.wustl.edu 37 5 5242237 5242237 + Missense_Mutation SNP G G T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 5 5242237 5242237 G T SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known missense c.2595 p.Q865H 0.012 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 38 0 0.00 31 4 11.43 - - - AKAP9 0 genome.wustl.edu 37 7 91682267 91682267 + Missense_Mutation SNP A A C TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 7 91682267 91682267 A C SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known missense c.5632 p.S1878R 0.754 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 29 0 0.00 35 10 22.22 - - - APLNR 0 genome.wustl.edu 37 11 57003529 57003529 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 11 57003529 57003529 C T SNP APLNR ENST00000257254 human ensembl 69_37n -1 known missense c.950 p.R317H 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_APJ_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors APLNR HGNC ENSG00000134817 23 0 0.00 5 9 64.29 - - - C17orf28 0 genome.wustl.edu 37 17 72951961 72951961 + Missense_Mutation SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 17 72951961 72951961 G A SNP C17orf28 ENST00000425042 human ensembl 69_37n -1 known missense c.1562 p.S521F 1.000 NULL pfam_Dymeclin - no_errors C17orf28 HGNC ENSG00000167861 46 0 0.00 149 40 21.16 - - - C3P1 0 genome.wustl.edu 37 19 10169599 10169599 + RNA SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 19 10169599 10169599 C T SNP C3P1 ENST00000495140 human ensembl 69_37n +1 known rna NULL NULL 0.928 - - - no_errors C3P1 HGNC ENSG00000167798 55 0 0.00 34 8 19.05 - - - CFHR5 0 genome.wustl.edu 37 1 196952137 196952137 + Missense_Mutation SNP T T G TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 1 196952137 196952137 T G SNP CFHR5 ENST00000367414 human ensembl 69_37n +1 known missense c.253 p.S85A 0.007 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 116 0 0.00 136 31 18.56 - - - CHCHD6 0 genome.wustl.edu 37 3 126423158 126423158 + Frame_Shift_Del DEL G G - TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 3 126423158 126423158 G - DEL CHCHD6 ENST00000290913 human ensembl 69_37n +1 known frame_shift_del c.3 p.S3fs 1.000 NULL pfam_DUF737 - no_errors CHCHD6 HGNC ENSG00000159685 11 0 0.00 4 2 33.33 - - - CPT2 0 genome.wustl.edu 37 1 53676854 53676854 + Missense_Mutation SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 1 53676854 53676854 G A SNP CPT2 ENST00000371486 human ensembl 69_37n +1 known missense c.1508 p.R503H 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 24 0 0.00 13 7 35.00 - - - CYP7B1 0 genome.wustl.edu 37 8 65509378 65509378 + Nonsense_Mutation SNP T T A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 8 65509378 65509378 T A SNP CYP7B1 ENST00000310193 human ensembl 69_37n -1 known nonsense c.1342 p.K448* 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 40 0 0.00 25 14 35.90 - - - DIS3L2 0 genome.wustl.edu 37 2 233164783 233164783 + Missense_Mutation SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 2 233164783 233164783 G A SNP DIS3L2 ENST00000325385 human ensembl 69_37n +1 known missense c.1693 p.G565R 0.999 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L2 HGNC ENSG00000144535 44 0 0.00 35 15 30.00 - - - DNAJC17 0 genome.wustl.edu 37 15 41060225 41060225 + Silent SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 15 41060225 41060225 G A SNP DNAJC17 ENST00000220496 human ensembl 69_37n -1 known silent c.828 p.L276 0.344 NULL pfam_DnaJ_N,pfam_RRM_dom,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC17 HGNC ENSG00000104129 26 0 0.00 20 9 31.03 - - - DSEL 0 genome.wustl.edu 37 18 65178341 65178341 + Missense_Mutation SNP G G C TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 18 65178341 65178341 G C SNP DSEL ENST00000310045 human ensembl 69_37n -1 known missense c.3535 p.P1179A 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 79 0 0.00 34 19 35.85 - - - EIF3L 0 genome.wustl.edu 37 22 38273806 38273808 + In_Frame_Del DEL GCA GCA - TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 22 38273806 38273808 GCA - DEL EIF3L ENST00000425539 human ensembl 69_37n +1 known in_frame_del c.1332_1334 p.Q445in_frame_del 1.000:1.000:1.000 pfam_TIF3_suL pfam_TIF3_suL - no_errors EIF3L HGNC ENSG00000100129 39 0 0.00 33 13 28.26 - - - ENOSF1 0 genome.wustl.edu 37 18 674341 674341 + Missense_Mutation SNP T T A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 18 674341 674341 T A SNP ENOSF1 ENST00000340116 human ensembl 69_37n -1 known missense c.1317 p.E439D 0.988 NULL pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENSG00000132199 118 0 0.00 146 17 10.43 - - - FAM21A 0 genome.wustl.edu 37 10 51853633 51853633 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 10 51853633 51853633 C T SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.1136 p.T379M 0.370 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 17 0 0.00 8 3 27.27 - - - FCAR 0 genome.wustl.edu 37 19 55399502 55399502 + Missense_Mutation SNP C C A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 19 55399502 55399502 C A SNP FCAR ENST00000355524 human ensembl 69_37n +1 known missense c.490 p.L164I 0.000 smart_Ig_sub smart_Ig_sub - no_errors FCAR HGNC ENSG00000186431 26 0 0.00 23 17 42.50 - - - GATA1 0 genome.wustl.edu 37 X 48650324 48650324 + Silent SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 X 48650324 48650324 C T SNP GATA1 ENST00000376670 human ensembl 69_37n +1 known silent c.294 p.Y98 0.736 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 20 0 0.00 15 7 31.82 - - - GH2 0 genome.wustl.edu 37 17 61958411 61958411 + Missense_Mutation SNP C C A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 17 61958411 61958411 C A SNP GH2 ENST00000332800 human ensembl 69_37n -1 known missense c.269 p.R90M 0.961 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 70 0 0.00 179 48 21.15 - - - HDAC2 0 genome.wustl.edu 37 6 114292109 114292110 + In_Frame_Ins INS - - CTG TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 6 114292109 114292110 - CTG INS HDAC2 ENST00000398283 human ensembl 69_37n -1 known in_frame_ins c.246_245 p.82in_frame_insS 0.014:0.004 NULL pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 8 0 0.00 10 3 23.08 - - - KLHL3 0 genome.wustl.edu 37 5 136969761 136969762 + Frame_Shift_Del DEL TA TA - TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 5 136969761 136969762 TA - DEL KLHL3 ENST00000309755 human ensembl 69_37n -1 known frame_shift_del c.1415_1414 p.Y472fs 1.000:0.998 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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 KLHL3 HGNC ENSG00000146021 17 0 0.00 25 10 27.78 - - - MFAP3L 0 genome.wustl.edu 37 4 170912535 170912535 + Missense_Mutation SNP A A T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 4 170912535 170912535 A T SNP MFAP3L ENST00000361618 human ensembl 69_37n -1 known missense c.1224 p.H408Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC ENSG00000198948 62 0 0.00 72 28 28.00 - - - MYH9 0 genome.wustl.edu 37 22 36684952 36684952 + Nonsense_Mutation SNP C C A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 22 36684952 36684952 C A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known nonsense c.4591 p.E1531* 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 70 0 0.00 41 22 34.92 - - - MYO1G 0 genome.wustl.edu 37 7 45004603 45004603 + Missense_Mutation SNP G G T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 7 45004603 45004603 G T SNP MYO1G ENST00000258787 human ensembl 69_37n -1 known missense c.2467 p.Q823K 0.999 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO1G HGNC ENSG00000136286 13 0 0.00 12 9 42.86 - - - NHSL2 0 genome.wustl.edu 37 X 71360164 71360164 + Silent SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 X 71360164 71360164 G A SNP NHSL2 ENST00000540800 human ensembl 69_37n +1 known silent c.2766 p.T922 0.001 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 44 0 0.00 38 16 29.63 - - - OR51E2 0 genome.wustl.edu 37 11 4703136 4703136 + Missense_Mutation SNP G G T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 11 4703136 4703136 G T SNP OR51E2 ENST00000396950 human ensembl 69_37n -1 known missense c.806 p.P269H 0.071 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 41 0 0.00 27 10 27.03 - - - PAPPA 0 genome.wustl.edu 37 9 119115961 119115961 + Silent SNP T T A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 9 119115961 119115961 T A SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known silent c.4236 p.P1412 0.918 superfamily_Complement_control_module pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 86 0 0.00 58 29 33.33 - - - PCF11 0 genome.wustl.edu 37 11 82877694 82877694 + Silent SNP A A G TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 11 82877694 82877694 A G SNP PCF11 ENST00000298281 human ensembl 69_37n +1 known silent c.1755 p.V585 0.521 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD - no_errors PCF11 HGNC ENSG00000165494 10 0 0.00 1 7 87.50 - - - PKHD1L1 0 genome.wustl.edu 37 8 110424512 110424512 + Missense_Mutation SNP C C A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 8 110424512 110424512 C A SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.2104 p.Q702K 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 69 0 0.00 46 23 33.33 - - - PLD1 0 genome.wustl.edu 37 3 171455363 171455363 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 3 171455363 171455363 C T SNP PLD1 ENST00000351298 human ensembl 69_37n -1 known missense c.247 p.A83T 0.345 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 84 0 0.00 86 26 23.21 - - - PTGES3 0 genome.wustl.edu 37 12 57065615 57065615 + Missense_Mutation SNP C C G TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 12 57065615 57065615 C G SNP PTGES3 ENST00000262033 human ensembl 69_37n -1 known missense c.203 p.R68T 1.000 pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors PTGES3 HGNC ENSG00000110958 54 0 0.00 51 19 27.14 - - - RBBP4 0 genome.wustl.edu 37 1 33138484 33138484 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 1 33138484 33138484 C T SNP RBBP4 ENST00000463378 human ensembl 69_37n +1 putative missense c.473 p.S158L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RBBP4 HGNC ENSG00000162521 89 0 0.00 70 32 31.37 - - - SAMD14 0 genome.wustl.edu 37 17 48191567 48191567 + Missense_Mutation SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 17 48191567 48191567 G A SNP SAMD14 ENST00000503131 human ensembl 69_37n -1 known missense c.1010 p.S337F 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD14 HGNC ENSG00000167100 34 0 0.00 31 80 72.07 - - - SBF1 0 genome.wustl.edu 37 22 50906107 50906107 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 22 50906107 50906107 C T SNP SBF1 ENST00000380817 human ensembl 69_37n -1 known missense c.292 p.V98M 0.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 31 0 0.00 29 4 12.12 - - - SEPT5 0 genome.wustl.edu 37 22 19708187 19708187 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 22 19708187 19708187 C T SNP SEPT5 ENST00000383045 human ensembl 69_37n +1 known missense c.640 p.R214W 0.998 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 17 0 0.00 17 6 26.09 - - - SERBP1 0 genome.wustl.edu 37 1 67891834 67891834 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 1 67891834 67891834 C T SNP SERBP1 ENST00000370995 human ensembl 69_37n -1 known missense c.448 p.E150K 1.000 NULL pfam_HABP4_PAIRBP1-bd - no_errors SERBP1 HGNC ENSG00000142864 112 0 0.00 76 43 36.13 - - - SLC22A11 0 genome.wustl.edu 37 11 64338508 64338508 + Silent SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 11 64338508 64338508 G A SNP SLC22A11 ENST00000301891 human ensembl 69_37n +1 known silent c.1647 p.S549 0.973 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A11 HGNC ENSG00000168065 52 0 0.00 61 16 20.51 - - - SUGP1 0 genome.wustl.edu 37 19 19390149 19390149 + Missense_Mutation SNP G G T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 19 19390149 19390149 G T SNP SUGP1 ENST00000247001 human ensembl 69_37n -1 known missense c.1401 p.D467E 1.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 34 0 0.00 24 9 27.27 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 20 0 0.00 5 15 75.00 - - - TRUB1 0 genome.wustl.edu 37 10 116710886 116710886 + Missense_Mutation SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 10 116710886 116710886 C T SNP TRUB1 ENST00000298746 human ensembl 69_37n +1 known missense c.419 p.T140I 1.000 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 206 0 0.00 135 59 30.41 - - - USP42 0 genome.wustl.edu 37 7 6175584 6175584 + Splice_Site SNP T T A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 7 6175584 6175584 T A SNP USP42 ENST00000306177 human ensembl 69_37n +1 known splice_site c.553+2 e3+2 1.000 - - - no_errors USP42 HGNC ENSG00000106346 71 0 0.00 68 25 26.88 - - - VARS 0 genome.wustl.edu 37 6 31749701 31749701 + Frame_Shift_Del DEL C C - TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 6 31749701 31749701 C - DEL VARS ENST00000375663 human ensembl 69_37n -1 known frame_shift_del c.2270 p.G757fs 1.000 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_synthetase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase - no_errors VARS HGNC ENSG00000204394 10 0 0.00 4 2 33.33 - - - VLDLR 0 genome.wustl.edu 37 9 2648254 2648254 + Missense_Mutation SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 9 2648254 2648254 G A SNP VLDLR ENST00000382100 human ensembl 69_37n +1 known missense c.1869 p.M623I 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 58 0 0.00 34 23 40.35 - - - VPS8 0 genome.wustl.edu 37 3 184570300 184570300 + Missense_Mutation SNP C C G TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 3 184570300 184570300 C G SNP VPS8 ENST00000287546 human ensembl 69_37n +1 known missense c.766 p.P256A 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 82 0 0.00 22 22 50.00 - - - XXYLT1 0 genome.wustl.edu 37 3 194790704 194790704 + Missense_Mutation SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 3 194790704 194790704 G A SNP XXYLT1 ENST00000310380 human ensembl 69_37n -1 known missense c.922 p.R308C 0.999 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 8 0 0.00 25 9 26.47 - - - ZC3HC1 0 genome.wustl.edu 37 7 129664182 129664182 + Missense_Mutation SNP C C A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 7 129664182 129664182 C A SNP ZC3HC1 ENST00000358303 human ensembl 69_37n -1 known missense c.941 p.R314L 1.000 pfam_NIPA/Rsm1 pfam_Znf_C3HC-like,pfam_NIPA/Rsm1 - no_errors ZC3HC1 HGNC ENSG00000091732 23 0 0.00 20 15 41.67 - - - ZDHHC18 0 genome.wustl.edu 37 1 27176930 27176930 + Splice_Site SNP G G A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 1 27176930 27176930 G A SNP ZDHHC18 ENST00000374142 human ensembl 69_37n +1 known splice_site c.784+1 e4+1 1.000 - - - no_errors ZDHHC18 HGNC ENSG00000204160 57 0 0.00 58 19 24.68 - - - ZNF271 0 genome.wustl.edu 37 18 32887914 32887914 + RNA SNP A A G TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6a411174-582a-4c68-bb04-5ea2e504bf7c de420622-f742-4781-873a-e9faffc94dd3 18 32887914 32887914 A G SNP ZNF271 ENST00000399070 human ensembl 69_37n +1 known rna NULL NULL 0.990 - - - no_errors ZNF271 HGNC ENSG00000257267 12 0 0.00 7 9 52.94 - - -