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 ABCC6 0 genome.wustl.edu 37 16 16284084 16284084 + Silent SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 16 16284084 16284084 G A SNP ABCC6 ENST00000205557 human ensembl 69_37n -1 known silent c.1572 p.A524 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 28 0 0.00 12 16 57.14 - - - ABCF3 0 genome.wustl.edu 37 3 183905745 183905745 + Missense_Mutation SNP G G C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 3 183905745 183905745 G C SNP ABCF3 ENST00000429586 human ensembl 69_37n +1 known missense c.543 p.E181D 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 50 0 0.00 50 13 20.00 - - - ACVR1B 0 genome.wustl.edu 37 12 52387771 52387771 + Silent SNP A A T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 52387771 52387771 A T SNP ACVR1B ENST00000257963 human ensembl 69_37n +1 known silent c.1395 p.A465 0.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 29 0 0.00 19 9 32.14 - - - AHI1 0 genome.wustl.edu 37 6 135787286 135787286 + Nonsense_Mutation SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 6 135787286 135787286 G A SNP AHI1 ENST00000265602 human ensembl 69_37n -1 known nonsense c.415 p.Q139* 0.006 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 119 0 0.00 118 15 11.28 - - - AKAP13 0 genome.wustl.edu 37 15 86284649 86284649 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 15 86284649 86284649 C T SNP AKAP13 ENST00000361243 human ensembl 69_37n +1 known missense c.7993 p.L2665F 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 13 0 0.00 13 5 27.78 - - - AKAP8 0 genome.wustl.edu 37 19 15469801 15469801 + Missense_Mutation SNP T T G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 19 15469801 15469801 T G SNP AKAP8 ENST00000269701 human ensembl 69_37n -1 known missense c.1600 p.K534Q 1.000 pfam_AKAP95 pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 57 0 0.00 40 13 24.53 - - - ANXA13 0 genome.wustl.edu 37 8 124724944 124724944 + Missense_Mutation SNP T T G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 8 124724944 124724944 T G SNP ANXA13 ENST00000262219 human ensembl 69_37n -1 known missense c.188 p.K63T 0.935 pfam_Annexin_repeat,superfamily_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 65 0 0.00 131 32 19.51 - - - ATF7 0 genome.wustl.edu 37 12 53946409 53946409 + Missense_Mutation SNP C C G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 53946409 53946409 C G SNP ATF7 ENST00000328463 human ensembl 69_37n -1 known missense c.61 p.E21Q 1.000 smart_Znf_C2H2-like,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2 pfam_bZIP_1,pfam_bZIP_2,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF7 HGNC ENSG00000170653 61 0 0.00 13 25 65.79 - - - BRPF1 0 genome.wustl.edu 37 3 9781344 9781344 + Missense_Mutation SNP A A G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 3 9781344 9781344 A G SNP BRPF1 ENST00000383829 human ensembl 69_37n +1 known missense c.1261 p.M421V 1.000 smart_Znf_PHD pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 15 0 0.00 19 8 28.57 - - - C14orf102 0 genome.wustl.edu 37 14 90782992 90782992 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 14 90782992 90782992 C T SNP C14orf102 ENST00000354366 human ensembl 69_37n -1 known missense c.337 p.D113N 0.016 NULL pfam_NRDE-2 - no_errors C14orf102 HGNC ENSG00000119720 77 0 0.00 97 15 13.39 - - - C1orf173 0 genome.wustl.edu 37 1 75038741 75038741 + Missense_Mutation SNP C C G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 1 75038741 75038741 C G SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known missense c.2653 p.V885L 0.018 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 55 0 0.00 94 28 22.95 - - - CLCA4 0 genome.wustl.edu 37 1 87045132 87045132 + Missense_Mutation SNP G G T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 1 87045132 87045132 G T SNP CLCA4 ENST00000370563 human ensembl 69_37n +1 known missense c.2218 p.V740L 0.914 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 31 0 0.00 22 13 37.14 - - - CROCCP2 0 genome.wustl.edu 37 1 16949355 16949355 + RNA SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 1 16949355 16949355 G A SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.042 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0.00 6 4 40.00 - - - CRYBG3 0 genome.wustl.edu 37 3 97599998 97599998 + Missense_Mutation SNP A A G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 3 97599998 97599998 A G SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.1243 p.I415V 0.938 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 48 0 0.00 23 25 52.08 - - - CSAD 0 genome.wustl.edu 37 12 53565185 53565188 + Frame_Shift_Del DEL GCGG GCGG - TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 GCGG GCGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 53565185 53565188 GCGG - DEL CSAD ENST00000267085 human ensembl 69_37n -1 known frame_shift_del c.573_570 p.R191fs 0.999:1.000:1.000:1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CSAD HGNC ENSG00000139631 20 0 0.00 16 5 23.81 - - - CYP2B6 0 genome.wustl.edu 37 19 41515230 41515230 + Missense_Mutation SNP A A T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 19 41515230 41515230 A T SNP CYP2B6 ENST00000324071 human ensembl 69_37n +1 known missense c.752 p.K251M 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 28 0 0.00 26 5 16.13 - - - DDX47 0 genome.wustl.edu 37 12 12974614 12974614 + Silent SNP A A C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 12974614 12974614 A C SNP DDX47 ENST00000358007 human ensembl 69_37n +1 known silent c.396 p.S132 0.106 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX47 HGNC ENSG00000213782 64 0 0.00 44 23 34.33 - - - DIDO1 0 genome.wustl.edu 37 20 61542888 61542888 + Missense_Mutation SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 20 61542888 61542888 G A SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known missense c.77 p.T26I 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 29 0 0.00 22 14 38.89 - - - DNAJB8 0 genome.wustl.edu 37 3 128181838 128181838 + Missense_Mutation SNP T T A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 3 128181838 128181838 T A SNP DNAJB8 ENST00000319153 human ensembl 69_37n -1 known missense c.251 p.H84L 0.036 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB8 HGNC ENSG00000179407 34 0 0.00 14 20 57.14 - - - E4F1 0 genome.wustl.edu 37 16 2284337 2284337 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 16 2284337 2284337 C T SNP E4F1 ENST00000301727 human ensembl 69_37n +1 known missense c.1541 p.S514L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 18 0 0.00 11 8 42.11 - - - EMP1 0 genome.wustl.edu 37 12 13366467 13366467 + Missense_Mutation SNP A A G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 13366467 13366467 A G SNP EMP1 ENST00000256951 human ensembl 69_37n +1 known missense c.133 p.T45A 0.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC ENSG00000134531 101 0 0.00 72 28 28.00 - - - FNDC1 0 genome.wustl.edu 37 6 159653643 159653643 + Frame_Shift_Del DEL C C - TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 6 159653643 159653643 C - DEL FNDC1 ENST00000297267 human ensembl 69_37n +1 known frame_shift_del c.2099 p.H702fs 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 8 0 0.00 9 4 30.77 - - - FRG1B 0 genome.wustl.edu 37 20 29624046 29624046 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 20 29624046 29624046 C T SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known missense c.70 p.P24S 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 40 0 0.00 40 6 13.04 - - - GPC5 0 genome.wustl.edu 37 13 92346012 92346012 + Missense_Mutation SNP G G C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 13 92346012 92346012 G C SNP GPC5 ENST00000377067 human ensembl 69_37n +1 known missense c.897 p.L299F 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 21 0 0.00 14 9 39.13 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32552016 32552016 + Silent SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 6 32552016 32552016 C A SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known silent c.240 p.T80 0.834 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 10 0 0.00 16 11 40.74 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32552039 32552039 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 6 32552039 32552039 C T SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known missense c.217 p.V73M 0.943 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 10 0 0.00 15 11 42.31 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32552048 32552048 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 6 32552048 32552048 C T SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known missense c.208 p.D70N 1.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 11 0 0.00 15 10 40.00 - - - HOXC10 0 genome.wustl.edu 37 12 54379358 54379358 + Silent SNP C C G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 54379358 54379358 C G SNP HOXC10 ENST00000303460 human ensembl 69_37n +1 known silent c.315 p.V105 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC10 HGNC ENSG00000180818 12 0 0.00 10 9 47.37 - - - HSPA14 0 genome.wustl.edu 37 10 14909121 14909121 + Missense_Mutation SNP C C G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 10 14909121 14909121 C G SNP HSPA14 ENST00000378372 human ensembl 69_37n +1 known missense c.1033 p.Q345E 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 52 0 0.00 45 24 34.78 - - - HYDIN 0 genome.wustl.edu 37 16 70926361 70926361 + Missense_Mutation SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 16 70926361 70926361 C A SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.9317 p.G3106V 0.999 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 148 0 0.00 103 27 20.77 - - - KCNA1 0 genome.wustl.edu 37 12 5021319 5021319 + Missense_Mutation SNP A A G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 5021319 5021319 A G SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known missense c.775 p.I259V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 17 0 0.00 19 7 26.92 - - - LPHN3 0 genome.wustl.edu 37 4 62542579 62542579 + Missense_Mutation SNP G G T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 4 62542579 62542579 G T SNP LPHN3 ENST00000507625 human ensembl 69_37n +1 known missense c.509 p.G170V 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 86 0 0.00 49 27 35.53 - - - MFSD6 0 genome.wustl.edu 37 2 191362340 191362340 + Missense_Mutation SNP A A C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 2 191362340 191362340 A C SNP MFSD6 ENST00000434582 human ensembl 69_37n +1 novel missense c.673 p.S225R 0.971 NULL pfam_MFS,pfam_MFS_enterobactin_exp_EntS,superfamily_MFS_dom_general_subst_transpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MFSD6 HGNC ENSG00000151690 47 0 0.00 32 14 30.43 - - - MFSD7 0 genome.wustl.edu 37 4 678308 678308 + Silent SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 4 678308 678308 G A SNP MFSD7 ENST00000404286 human ensembl 69_37n -1 known silent c.807 p.L269 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 19 0 0.00 12 11 47.83 - - - MORC1 0 genome.wustl.edu 37 3 108723692 108723692 + Missense_Mutation SNP G G T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 3 108723692 108723692 G T SNP MORC1 ENST00000232603 human ensembl 69_37n -1 known missense c.2057 p.P686Q 0.001 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 37 0 0.00 33 8 19.51 - - - MUC7 0 genome.wustl.edu 37 4 71347316 71347316 + Silent SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 4 71347316 71347316 C A SNP MUC7 ENST00000304887 human ensembl 69_37n +1 known silent c.855 p.P285 0.015 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 256 0 0.00 123 17 12.06 - - - MYH11 0 genome.wustl.edu 37 16 15878554 15878554 + Splice_Site SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 16 15878554 15878554 C T SNP MYH11 ENST00000396324 human ensembl 69_37n -1 known splice_site c.654+1 e5+1 1.000 - - - no_errors MYH11 HGNC ENSG00000133392 61 0 0.00 12 19 61.29 - - - MYT1L 0 genome.wustl.edu 37 2 1805469 1805469 + Missense_Mutation SNP T T A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 2 1805469 1805469 T A SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.3275 p.Q1092L 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 94 0 0.00 56 44 44.00 - - - NCKAP1 0 genome.wustl.edu 37 2 183800077 183800077 + Missense_Mutation SNP T T C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 2 183800077 183800077 T C SNP NCKAP1 ENST00000360982 human ensembl 69_37n -1 known missense c.2740 p.T914A 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 64 0 0.00 52 24 31.58 - - - OVCH1 0 genome.wustl.edu 37 12 29629199 29629199 + Missense_Mutation SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 29629199 29629199 G A SNP OVCH1 ENST00000318184 human ensembl 69_37n -1 known missense c.1411 p.P471S 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,prints_Peptidase_S1A,pfscan_CUB,pfscan_Peptidase_S1_S6 - no_errors OVCH1 HGNC ENSG00000187950 39 0 0.00 31 30 49.18 - - - PAPPA 0 genome.wustl.edu 37 9 118974155 118974155 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 9 118974155 118974155 C T SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.1862 p.T621I 0.998 pfam_Peptidase_M43 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 16 0 0.00 19 4 17.39 - - - PAPPA 0 genome.wustl.edu 37 9 118997528 118997528 + Missense_Mutation SNP T T C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 9 118997528 118997528 T C SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.2344 p.Y782H 1.000 superfamily_Fibronectin_type3 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 20 0 0.00 3 11 78.57 - - - PCDHB7 0 genome.wustl.edu 37 5 140553041 140553041 + Missense_Mutation SNP A A G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 5 140553041 140553041 A G SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known missense c.625 p.S209G 0.108 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 18 0 0.00 17 11 39.29 - - - PCDHB7 0 genome.wustl.edu 37 5 140554394 140554394 + Missense_Mutation SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 5 140554394 140554394 G A SNP PCDHB7 ENST00000231137 human ensembl 69_37n +1 known missense c.1978 p.V660M 0.649 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 26 0 0.00 34 6 15.00 - - - PRB2 0 genome.wustl.edu 37 12 11546260 11546260 + Missense_Mutation SNP T T G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 11546260 11546260 T G SNP PRB2 ENST00000389362 human ensembl 69_37n -1 known missense c.752 p.N251T 0.001 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 110 0 0.00 65 31 31.63 - - - PTPRB 0 genome.wustl.edu 37 12 71002944 71002944 + Missense_Mutation SNP G G C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 12 71002944 71002944 G C SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known missense c.884 p.T295R 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 36 0 0.00 30 17 36.17 - - - RPL13A 0 genome.wustl.edu 37 19 49993772 49993772 + Missense_Mutation SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 19 49993772 49993772 C A SNP RPL13A ENST00000391857 human ensembl 69_37n +1 known missense c.195 p.N65K 1.000 pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc - no_errors RPL13A HGNC ENSG00000142541 22 0 0.00 6 6 50.00 - - - RRN3 0 genome.wustl.edu 37 16 15165061 15165061 + Missense_Mutation SNP G G T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 16 15165061 15165061 G T SNP RRN3 ENST00000198767 human ensembl 69_37n -1 known missense c.1176 p.D392E 1.000 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 32 0 0.00 10 12 54.55 - - - RSPH10B 0 genome.wustl.edu 37 7 6005323 6005323 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 7 6005323 6005323 C T SNP RSPH10B ENST00000337579 human ensembl 69_37n -1 known missense c.275 p.R92H 0.005 pfam_MORN pfam_MORN,smart_MORN - no_errors RSPH10B HGNC ENSG00000155026 10 0 0.00 4 13 76.47 - - - RUSC2 0 genome.wustl.edu 37 9 35558483 35558483 + Missense_Mutation SNP G G T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 9 35558483 35558483 G T SNP RUSC2 ENST00000361226 human ensembl 69_37n +1 known missense c.3260 p.G1087V 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 38 0 0.00 25 22 45.83 - - - RXRG 0 genome.wustl.edu 37 1 165398021 165398021 + Missense_Mutation SNP C C G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 1 165398021 165398021 C G SNP RXRG ENST00000359842 human ensembl 69_37n -1 known missense c.232 p.G78R 1.000 pfam_DUF3345 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 20 0 0.00 21 10 32.26 - - - RYR1 0 genome.wustl.edu 37 19 38939431 38939431 + Missense_Mutation SNP G G A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 19 38939431 38939431 G A SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.1100 p.R367Q 1.000 pfam_MIR,superfamily_MIR pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 23 0 0.00 10 5 33.33 - - - SCYL3 0 genome.wustl.edu 37 1 169857904 169857904 + Silent SNP A A C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 1 169857904 169857904 A C SNP SCYL3 ENST00000367770 human ensembl 69_37n -1 known silent c.78 p.V26 0.576 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC ENSG00000000457 52 0 0.00 98 38 27.74 - - - SEMA4D 0 genome.wustl.edu 37 9 91978680 91978680 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 9 91978680 91978680 C T SNP SEMA4D ENST00000343780 human ensembl 69_37n -1 known missense c.2068 p.V690M 0.013 pfscan_Ig-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4D HGNC ENSG00000187764 29 0 0.00 19 12 38.71 - - - SGK1 0 genome.wustl.edu 37 6 134494418 134494418 + Missense_Mutation SNP C C G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 6 134494418 134494418 C G SNP SGK1 ENST00000367858 human ensembl 69_37n -1 known missense c.696 p.K232N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK1 HGNC ENSG00000118515 70 0 0.00 62 28 31.11 - - - SLC4A1 0 genome.wustl.edu 37 17 42335404 42335404 + Missense_Mutation SNP A A G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 17 42335404 42335404 A G SNP SLC4A1 ENST00000262418 human ensembl 69_37n -1 known missense c.1232 p.F411S 1.000 pfam_HCO3_transpt_C,prints_Anion_exchange,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 33 0 0.00 7 17 70.83 - - - SPOCD1 0 genome.wustl.edu 37 1 32279574 32279574 + Missense_Mutation SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 1 32279574 32279574 C A SNP SPOCD1 ENST00000360482 human ensembl 69_37n -1 known missense c.1361 p.S454I 0.053 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 33 0 0.00 20 18 47.37 - - - TANC1 0 genome.wustl.edu 37 2 160019974 160019974 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 2 160019974 160019974 C T SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known missense c.863 p.A288V 0.889 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 22 0 0.00 16 13 44.83 - - - TFDP3 0 genome.wustl.edu 37 X 132351078 132351078 + Missense_Mutation SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 X 132351078 132351078 C A SNP TFDP3 ENST00000310125 human ensembl 69_37n -1 known missense c.1210 p.D404Y 1.000 NULL pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP3 HGNC ENSG00000183434 13 0 0.00 15 6 28.57 - - - TFDP3 0 genome.wustl.edu 37 X 132351079 132351079 + Missense_Mutation SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 X 132351079 132351079 C A SNP TFDP3 ENST00000310125 human ensembl 69_37n -1 known missense c.1209 p.E403D 1.000 pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP3 HGNC ENSG00000183434 13 0 0.00 15 6 28.57 - - - TLR7 0 genome.wustl.edu 37 X 12903898 12903898 + Missense_Mutation SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 X 12903898 12903898 C A SNP TLR7 ENST00000380659 human ensembl 69_37n +1 known missense c.271 p.L91M 0.690 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 37 0 0.00 22 22 50.00 - - - TP53 0 genome.wustl.edu 37 17 7577518 7577518 + Missense_Mutation SNP T T A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 17 7577518 7577518 T A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.763 p.I255F 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 15 0 0.00 13 11 45.83 - - - TRMT112 0 genome.wustl.edu 37 11 64084394 64084394 + Missense_Mutation SNP A A C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 11 64084394 64084394 A C SNP TRMT112 ENST00000544844 human ensembl 69_37n -1 known missense c.317 p.M106R 0.935 pfam_UPF0434/Trm112 pfam_UPF0434/Trm112 - no_errors TRMT112 HGNC ENSG00000173113 20 0 0.00 24 15 38.46 - - - WHAMM 0 genome.wustl.edu 37 15 83502073 83502073 + Missense_Mutation SNP A A G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 15 83502073 83502073 A G SNP WHAMM ENST00000286760 human ensembl 69_37n +1 known missense c.2215 p.I739V 0.039 pfscan_WH2_dom superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 34 0 0.00 17 20 54.05 - - - ZAR1L 0 genome.wustl.edu 37 13 32885924 32885924 + Missense_Mutation SNP G G C TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 13 32885924 32885924 G C SNP ZAR1L ENST00000345108 human ensembl 69_37n -1 known missense c.139 p.P47A 0.074 NULL NULL - no_errors ZAR1L HGNC ENSG00000189167 9 0 0.00 7 11 61.11 - - - ZCCHC18 0 genome.wustl.edu 37 X 103360019 103360019 + RNA SNP C C A TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 X 103360019 103360019 C A SNP ZCCHC18 ENST00000422784 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors ZCCHC18 HGNC ENSG00000166707 23 0 0.00 25 9 26.47 - - - ZNF461 0 genome.wustl.edu 37 19 37129736 37129736 + Missense_Mutation SNP T T G TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 19 37129736 37129736 T G SNP ZNF461 ENST00000588268 human ensembl 69_37n -1 known missense c.1511 p.K504T 0.994 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 ZNF461 HGNC ENSG00000197808 53 0 0.00 27 22 44.90 - - - ZNF671 0 genome.wustl.edu 37 19 58232994 58232994 + Missense_Mutation SNP C C T TCGA-E2-A1L7-01A-11D-A142-09 TCGA-E2-A1L7-10A-01D-A142-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33a09072-6554-4d46-b738-0852624940af f5286adc-5c10-4b09-a433-daeca4c1f377 19 58232994 58232994 C T SNP ZNF671 ENST00000317398 human ensembl 69_37n -1 known missense c.460 p.V154I 0.001 NULL 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 ZNF671 HGNC ENSG00000083814 35 0 0.00 27 18 40.00 - - -