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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCC6 0 genome.wustl.edu 37 16 16271331 16271331 + Silent SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 16271331 16271331 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.2568 p.Q856 0.930 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 tier1 - - 58 0 0.00 60 4 6.25 ADAMTS3 0 genome.wustl.edu 37 4 73169747 73169747 + Missense_Mutation SNP C C G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 4 73169747 73169747 C G SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.2311 p.E771Q 1.000 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 64 0 0.00 34 4 10.53 ADCY8 0 genome.wustl.edu 37 8 131922004 131922004 + Missense_Mutation SNP C C G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 8 131922004 131922004 C G SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1590 p.W530C 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 78 0 0.00 71 16 18.39 ADHFE1 0 genome.wustl.edu 37 8 67372632 67372632 + Missense_Mutation SNP G G C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 8 67372632 67372632 G C SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known missense c.1252 p.D418H 1.000 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 tier1 - - 58 0 0.00 44 20 31.25 ALG10 0 genome.wustl.edu 37 12 34179678 34179678 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 34179678 34179678 A G SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known missense c.1250 p.Y417C 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 tier1 - - 104 0 0.00 94 15 13.76 ANGEL2 0 genome.wustl.edu 37 1 213180441 213180442 + RNA INS - - A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 213180441 213180442 - A INS ANGEL2 ENST00000460337 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.007 - - - no_errors ANGEL2 HGNC ENSG00000174606 tier1 13 0 0.00 16 5 23.81 ANKRD27 0 genome.wustl.edu 37 19 33130212 33130212 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 19 33130212 33130212 G T SNP ANKRD27 ENST00000587352 human ensembl 74_37 -1 novel missense c.1166 p.P389H 0.006 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors ANKRD27 HGNC ENSG00000105186 tier1 - - 30 0 0.00 41 4 8.89 ANO5 0 genome.wustl.edu 37 11 22297708 22297708 + Missense_Mutation SNP T T C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 11 22297708 22297708 T C SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.2483 p.V828A 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 tier1 - - 62 0 0.00 76 10 11.63 APAF1 0 genome.wustl.edu 37 12 99126322 99126322 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 99126322 99126322 A G SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known missense c.3725 p.Y1242C 1.000 superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 tier1 - - 27 0 0.00 32 5 13.51 ARAP2 0 genome.wustl.edu 37 4 36214868 36214868 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 4 36214868 36214868 G T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.1038 p.S346 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 50 0 0.00 34 4 10.53 ATP8B4 0 genome.wustl.edu 37 15 50366377 50366377 + Nonsense_Mutation SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 15 50366377 50366377 C A SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known nonsense c.34 p.E12* 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 tier1 - - 56 0 0.00 60 4 6.15 ATRNL1 0 genome.wustl.edu 37 10 117075177 117075177 + Nonsense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 10 117075177 117075177 G T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known nonsense c.2968 p.E990* 1.000 pfam_Plexin_repeat,smart_Plexin-like_fold pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 58 0 0.00 56 4 6.67 BCLAF1 0 genome.wustl.edu 37 6 136596731 136596731 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 6 136596731 136596731 G T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known silent c.1791 p.A597 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 135 0 0.00 95 9 8.57 BRD7 0 genome.wustl.edu 37 16 50368678 50368679 + Frame_Shift_Del DEL CT CT - TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 50368678 50368679 CT - DEL BRD7 ENST00000394689 human ensembl 74_37 -1 known frame_shift_del c.831_830 p.E277fs 0.079:0.258 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 tier1 21 0 0.00 10 3 23.08 C10orf90 0 genome.wustl.edu 37 10 128192578 128192578 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 10 128192578 128192578 G T SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.1482 p.S494R 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 - - 127 0 0.00 105 32 23.36 C1orf192 0 genome.wustl.edu 37 1 161335367 161335368 + Frame_Shift_Ins INS - - T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 161335367 161335368 0 T INS C1orf192 ENST00000367974 human ensembl 74_37 -1 known frame_shift_ins c.297_296 p.N99fs 0.977:0.985 NULL NULL - no_errors C1orf192 HGNC ENSG00000188931 86 0 0.00 91 9 9.00 C3 0 genome.wustl.edu 37 19 6693004 6693004 + Silent SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 19 6693004 6693004 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known silent c.3321 p.L1107 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 73 0 0.00 35 14 28.57 C4orf50 0 genome.wustl.edu 37 4 5990869 5990870 + Frame_Shift_Del DEL CT CT - TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 4 5990869 5990870 CT - DEL C4orf50 ENST00000531445 human ensembl 74_37 -1 known frame_shift_del c.630_629 p.E210fs 0.000:0.000 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 41 0 0.00 30 4 11.76 C7orf49 0 genome.wustl.edu 37 7 134853654 134853654 + Missense_Mutation SNP C C G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 134853654 134853654 C G SNP C7orf49 ENST00000393114 human ensembl 74_37 -1 known missense c.21 p.E7D 0.001 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 34 0 0.00 34 2 5.56 CALM1 0 genome.wustl.edu 37 14 90866417 90866417 + Silent SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 14 90866417 90866417 G A SNP CALM1 ENST00000356978 human ensembl 74_37 +1 known silent c.12 p.Q4 1.000 NULL pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors CALM1 HGNC ENSG00000198668 tier1 - - 60 0 0.00 64 4 5.88 CCT6B 0 genome.wustl.edu 37 17 33255125 33255125 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 33255125 33255125 G A SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known missense c.1535 p.A512V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 tier1 - - 93 0 0.00 57 34 37.36 CDH11 0 genome.wustl.edu 37 16 64984804 64984804 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 64984804 64984804 G A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1760 p.T587I 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 51 0 0.00 58 7 10.77 CDHR3 0 genome.wustl.edu 37 7 105668105 105668106 + Splice_Site INS - - A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 105668105 105668106 - A INS CDHR3 ENST00000542731 human ensembl 74_37 +1 known splice_site_ins c.2259-3_2259-2 e16-2 0.004:0.000 - - - no_errors CDHR3 HGNC ENSG00000128536 tier1 48 0 0.00 58 10 14.71 CELSR1 0 genome.wustl.edu 37 22 46793652 46793652 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 22 46793652 46793652 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.5620 p.D1874N 0.878 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 rs141922879 - 113 0 0.00 77 19 19.79 CHD7 0 genome.wustl.edu 37 8 61763057 61763057 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 8 61763057 61763057 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.5410 p.E1804K 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 91 0 0.00 67 7 9.46 CHD9 0 genome.wustl.edu 37 16 53262985 53262985 + Silent SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 53262985 53262985 A G SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.2259 p.Q753 1.000 smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 55 0 0.00 26 3 10.34 CHRD 0 genome.wustl.edu 37 3 184106703 184106703 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 3 184106703 184106703 G A SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.2732 p.R911Q 1.000 smart_VWF_C,pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 - - 51 0 0.00 43 31 41.89 CITED2 0 genome.wustl.edu 37 6 139694663 139694663 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 6 139694663 139694663 G T SNP CITED2 ENST00000367651 human ensembl 74_37 -1 known missense c.419 p.P140H 1.000 pfam_CITED pfam_CITED - no_errors CITED2 HGNC ENSG00000164442 tier1 - - 45 0 0.00 55 4 6.78 COPE 0 genome.wustl.edu 37 19 19010510 19010510 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 19 19010510 19010510 A G SNP COPE ENST00000262812 human ensembl 74_37 -1 known missense c.905 p.L302P 0.997 pfam_Coatomer_esu,pirsf_Coatomer_esu pfam_Coatomer_esu,pirsf_Coatomer_esu - no_errors COPE HGNC ENSG00000105669 tier1 - - 133 0 0.00 132 14 9.59 CPD 0 genome.wustl.edu 37 17 28772820 28772820 + Silent SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 28772820 28772820 A G SNP CPD ENST00000225719 human ensembl 74_37 +1 known silent c.2655 p.K885 0.929 smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 tier1 - - 48 0 0.00 47 4 7.84 CUEDC1 0 genome.wustl.edu 37 17 55950050 55950050 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 55950050 55950050 C T SNP CUEDC1 ENST00000360238 human ensembl 74_37 -1 known missense c.758 p.R253H 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors CUEDC1 HGNC ENSG00000180891 77 0 0.00 75 4 5.06 CYYR1 0 genome.wustl.edu 37 21 27852733 27852733 + Silent SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 21 27852733 27852733 C T SNP CYYR1 ENST00000299340 human ensembl 74_37 -1 known silent c.192 p.A64 0.699 pfam_CYYR1 pfam_CYYR1 - no_errors CYYR1 HGNC ENSG00000166265 35 0 0.00 24 3 11.11 DCAF6 0 genome.wustl.edu 37 1 168007624 168007624 + Missense_Mutation SNP A A T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 168007624 168007624 A T SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.1625 p.K542M 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 27 0 0.00 23 2 8.00 DGCR2 0 genome.wustl.edu 37 22 19048340 19048340 + Missense_Mutation SNP T T A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 22 19048340 19048340 T A SNP DGCR2 ENST00000545799 human ensembl 74_37 -1 known missense c.745 p.R249W 0.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,pfscan_LDrepeatLR_classA_rpt - no_errors DGCR2 HGNC ENSG00000070413 38 0 0.00 32 3 8.57 DMTF1 0 genome.wustl.edu 37 7 86811353 86811354 + Frame_Shift_Ins INS - - T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 86811353 86811354 0 T INS DMTF1 ENST00000394702 human ensembl 74_37 +1 known frame_shift_ins c.731_732 p.F248fs 1.000:1.000 NULL NULL - no_errors DMTF1 HGNC ENSG00000135164 54 0 0.00 120 7 5.51 DNAH7 0 genome.wustl.edu 37 2 196749416 196749416 + Nonsense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 2 196749416 196749416 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known nonsense c.5656 p.R1886* 0.995 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 33 0 0.00 27 2 6.90 DOCK4 0 genome.wustl.edu 37 7 111509684 111509684 + Nonsense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 111509684 111509684 G T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known nonsense c.2055 p.Y685* 0.935 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 51 0 0.00 37 2 5.13 EID2 0 genome.wustl.edu 37 19 40030187 40030187 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 19 40030187 40030187 C T SNP EID2 ENST00000390658 human ensembl 74_37 -1 known missense c.533 p.R178H 0.996 NULL NULL - no_errors EID2 HGNC ENSG00000176396 tier1 - - 65 0 0.00 39 4 9.30 ELAC2 0 genome.wustl.edu 37 17 12898129 12898129 + Missense_Mutation SNP C C G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 12898129 12898129 C G SNP ELAC2 ENST00000338034 human ensembl 74_37 -1 known missense c.1981 p.V661L 0.541 pfam_Beta-lactamas-like pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 tier1 - - 23 0 0.00 9 4 30.77 ELOVL1 0 genome.wustl.edu 37 1 43830658 43830658 + Missense_Mutation SNP T T A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 43830658 43830658 T A SNP ELOVL1 ENST00000372458 human ensembl 74_37 -1 known missense c.259 p.S87C 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL1 HGNC ENSG00000066322 tier1 - - 27 0 0.00 18 10 35.71 ENSG00000219926 0 genome.wustl.edu 37 13 64415472 64415472 + RNA SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 13 64415472 64415472 C A SNP ENSG00000219926 ENST00000607822 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-394A14.2 Clone_based_vega_gene ENSG00000219926 tier1 - - 14 0 0.00 4 8 66.67 ENSG00000228980 0 genome.wustl.edu 37 3 109136698 109136698 + RNA SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 3 109136698 109136698 C T SNP ENSG00000228980 ENST00000489670 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000228980 50 0 0.00 51 5 8.93 ENSG00000234277 0 genome.wustl.edu 37 1 227618722 227618722 + RNA DEL A A - TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 227618722 227618722 A - DEL ENSG00000234277 ENST00000445817 human ensembl 74_37 +1 known rna NULL NULL 0.163 - - - no_errors CTD-2090I13.1 Clone_based_vega_gene ENSG00000234277 tier1 12 0 0.00 9 3 25.00 ENSG00000234810 0 genome.wustl.edu 37 1 56197233 56197233 + RNA SNP T T C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 56197233 56197233 T C SNP ENSG00000234810 ENST00000422374 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors RP11-466L17.1 Clone_based_vega_gene ENSG00000234810 tier1 - - 12 0 0.00 18 8 30.77 EPHA5 0 genome.wustl.edu 37 4 66213881 66213881 + Missense_Mutation SNP A A C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 4 66213881 66213881 A C SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2549 p.I850R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 54 0 0.00 32 6 15.79 F2 0 genome.wustl.edu 37 11 46751011 46751011 + Silent SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 11 46751011 46751011 G A SNP F2 ENST00000311907 human ensembl 74_37 +1 known silent c.1554 p.G518 0.037 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain - no_errors F2 HGNC ENSG00000180210 tier1 - - 37 0 0.00 32 25 43.86 FAF1 0 genome.wustl.edu 37 1 50941345 50941345 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 50941345 50941345 G A SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.1660 p.R554W 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 39 0 0.00 38 2 5.00 FAM135A 0 genome.wustl.edu 37 6 71236246 71236246 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 6 71236246 71236246 G T SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.3459 p.L1153F 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 44 0 0.00 53 4 7.02 FAM157C 0 genome.wustl.edu 37 16 90173100 90173100 + RNA SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 90173100 90173100 C A SNP FAM157C ENST00000563357 human ensembl 74_37 +1 known rna NULL NULL 0.023 - - - no_errors FAM157C HGNC ENSG00000260528 tier1 - - 110 0 0.00 110 24 17.91 FAM214B 0 genome.wustl.edu 37 9 35106349 35106349 + Missense_Mutation SNP T T A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 9 35106349 35106349 T A SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.1118 p.E373V 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 42 0 0.00 31 2 6.06 FLJ40448 0 genome.wustl.edu 37 16 88809254 88809254 + RNA SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 88809254 88809254 C T SNP FLJ40448 ENST00000333666 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors RP5-1142A6.8 Clone_based_vega_gene ENSG00000182376 tier1 - - 14 0 0.00 10 4 28.57 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74819776 74819776 + Silent SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 74819776 74819776 A G SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known silent c.1482 p.K494 0.999 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 60 0 0.00 42 3 6.67 FRMPD3 0 genome.wustl.edu 37 X 106803587 106803587 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 X 106803587 106803587 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.962 p.T321I 0.478 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 15 0 0.00 11 7 38.89 FUZ 0 genome.wustl.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 19 50310483 50310485 CAG - DEL FUZ ENST00000313777 human ensembl 74_37 -1 known in_frame_del c.1182_1180 p.L394in_frame_del 0.279:0.838:0.863 NULL NULL - no_errors FUZ HGNC ENSG00000010361 tier1 44 0 0.00 45 5 10.00 GAS2L2 0 genome.wustl.edu 37 17 34074204 34074204 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 34074204 34074204 G T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known missense c.916 p.Q306K 0.848 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 tier1 - - 74 0 0.00 56 14 20.00 GCN1L1 0 genome.wustl.edu 37 12 120569744 120569744 + Missense_Mutation SNP T T C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 120569744 120569744 T C SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.7400 p.Q2467R 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 39 0 0.00 30 7 18.92 GDF2 0 genome.wustl.edu 37 10 48413931 48413931 + Missense_Mutation SNP T T A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 10 48413931 48413931 T A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.937 p.T313S 0.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 - - 56 0 0.00 35 13 27.08 GLI3 0 genome.wustl.edu 37 7 42004063 42004063 + Silent SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 42004063 42004063 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.4608 p.S1536 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 63 0 0.00 48 25 34.25 GLT1D1 0 genome.wustl.edu 37 12 129373274 129373274 + Missense_Mutation SNP T T G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 129373274 129373274 T G SNP GLT1D1 ENST00000442111 human ensembl 74_37 +1 known missense c.308 p.V103G 0.980 NULL pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC ENSG00000151948 56 0 0.00 54 3 5.26 GON4L 0 genome.wustl.edu 37 1 155785777 155785777 + RNA DEL A A - TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 155785777 155785777 A - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GON4L HGNC ENSG00000116580 tier1 18 0 0.00 10 4 28.57 GPM6A 0 genome.wustl.edu 37 4 176555905 176555905 + RNA SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 4 176555905 176555905 C T SNP GPM6A ENST00000506219 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors GPM6A HGNC ENSG00000150625 tier1 - - 78 0 0.00 51 7 12.07 GPR98 0 genome.wustl.edu 37 5 90024645 90024645 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 5 90024645 90024645 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.10321 p.G3441W 0.001 pfscan_EAR pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 97 0 0.00 73 4 5.19 HDAC4 0 genome.wustl.edu 37 2 239990219 239990219 + Frame_Shift_Del DEL G G - TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 2 239990219 239990219 G - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.2820 p.T941fs 0.986 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 tier1 29 0 0.00 25 2 7.41 HDAC9 0 genome.wustl.edu 37 7 18674352 18674352 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 18674352 18674352 C T SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.899 p.T300I 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 124 0 0.00 102 23 18.40 HIST2H2BF 0 genome.wustl.edu 37 1 149783891 149783891 + RNA SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 149783891 149783891 A G SNP HIST2H2BF ENST00000469483 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HIST2H2BF HGNC ENSG00000203814 tier1 - - 95 0 0.00 66 19 22.35 IGF2R 0 genome.wustl.edu 37 6 160471650 160471650 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 6 160471650 160471650 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.2660 p.T887M 0.147 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 - - 56 0 0.00 30 11 26.83 IRGC 0 genome.wustl.edu 37 19 44223370 44223370 + Silent SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 19 44223370 44223370 G A SNP IRGC ENST00000244314 human ensembl 74_37 +1 known silent c.660 p.P220 0.000 pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 tier1 - - 12 0 0.00 16 4 20.00 KCNH6 0 genome.wustl.edu 37 17 61613295 61613295 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 61613295 61613295 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.1367 p.G456D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 tier1 - - 72 0 0.00 77 9 10.47 KCNQ2 0 genome.wustl.edu 37 20 62045497 62045497 + Silent SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 62045497 62045497 G A SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.1491 p.C497 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 tier1 - - 93 0 0.00 67 66 49.62 KIAA0907 0 genome.wustl.edu 37 1 155891416 155891416 + Missense_Mutation SNP T T C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 155891416 155891416 T C SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known missense c.1016 p.Y339C 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 tier1 - - 55 0 0.00 35 11 23.91 KIF13A 0 genome.wustl.edu 37 6 17849622 17849622 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 6 17849622 17849622 G T SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known silent c.816 p.G272 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 - - 73 0 0.00 58 4 6.45 KIF1B 0 genome.wustl.edu 37 1 10356990 10356990 + Missense_Mutation SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 10356990 10356990 C A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.1759 p.R587S 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 30 0 0.00 18 3 14.29 KMT2D 0 genome.wustl.edu 37 12 49426055 49426055 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 49426055 49426055 G T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.12433 p.P4145T 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 41 0 0.00 38 4 9.52 KRT18P59 0 genome.wustl.edu 37 11 124984117 124984117 + RNA SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 11 124984117 124984117 G T SNP KRT18P59 ENST00000534728 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors KRT18P59 HGNC ENSG00000187686 tier1 - - 32 0 0.00 13 3 18.75 LIPJ 0 genome.wustl.edu 37 10 90366476 90366476 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 10 90366476 90366476 G A SNP LIPJ ENST00000371939 human ensembl 74_37 +1 known missense c.913 p.A305T 0.391 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 tier1 - - 57 0 0.00 66 4 5.71 LRRC34 0 genome.wustl.edu 37 3 169526464 169526464 + Missense_Mutation SNP G G C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 3 169526464 169526464 G C SNP LRRC34 ENST00000446859 human ensembl 74_37 -1 known missense c.209 p.P70R 0.009 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 tier1 - - 57 0 0.00 68 5 6.85 LUC7L3 0 genome.wustl.edu 37 17 48829869 48829869 + RNA SNP C C G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 48829869 48829869 C G SNP LUC7L3 ENST00000503798 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors LUC7L3 HGNC ENSG00000108848 tier1 - - 58 0 0.00 42 6 12.50 MC4R 0 genome.wustl.edu 37 18 58038995 58038995 + Nonsense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 18 58038995 58038995 G T SNP MC4R ENST00000299766 human ensembl 74_37 -1 known nonsense c.588 p.C196* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 52 0 0.00 36 3 7.69 ME2 0 genome.wustl.edu 37 18 48450549 48450549 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 18 48450549 48450549 G A SNP ME2 ENST00000321341 human ensembl 74_37 +1 known missense c.1138 p.A380T 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 tier1 - - 55 0 0.00 54 4 6.90 MFN2 0 genome.wustl.edu 37 1 12049265 12049265 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 12049265 12049265 G T SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.40 p.V14F 0.920 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 55 0 0.00 40 3 6.98 MID1 0 genome.wustl.edu 37 X 10417677 10417677 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 X 10417677 10417677 G A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known missense c.1735 p.R579C 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 tier1 - - 11 0 0.00 7 12 63.16 MKI67 0 genome.wustl.edu 37 10 129902236 129902236 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 10 129902236 129902236 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.7868 p.T2623M 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 117 0 0.00 91 33 26.61 MME 0 genome.wustl.edu 37 3 154886358 154886358 + Missense_Mutation SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 3 154886358 154886358 C A SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.1858 p.Q620K 0.871 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 tier1 - - 71 0 0.00 78 9 10.34 MON2 0 genome.wustl.edu 37 12 62936944 62936944 + Missense_Mutation SNP T T A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 62936944 62936944 T A SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.2432 p.I811N 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 tier1 - - 112 0 0.00 63 6 8.70 MROH9 0 genome.wustl.edu 37 1 170985377 170985377 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 170985377 170985377 A G SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.1808 p.Q603R 0.189 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 97 0 0.00 69 5 6.76 MUC4 0 genome.wustl.edu 37 3 195505314 195505314 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 3 195505314 195505314 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12803 p.P4268L 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs142178516 - 49 0 0.00 90 25 21.74 MYO1C 0 genome.wustl.edu 37 17 1378125 1378125 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 1378125 1378125 A G SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.1697 p.L566P 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 tier1 - - 40 0 0.00 25 21 45.65 NEB 0 genome.wustl.edu 37 2 152471049 152471049 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 2 152471049 152471049 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.11342 p.R3781Q 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 106 0 0.00 106 16 13.11 NFE2L3 0 genome.wustl.edu 37 7 26225269 26225269 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 26225269 26225269 G A SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.1951 p.D651N 1.000 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 tier1 - - 45 0 0.00 57 15 20.83 NPIPB7 0 genome.wustl.edu 37 16 28468188 28468188 + Nonsense_Mutation SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 28468188 28468188 C A SNP NPIPB7 ENST00000452313 human ensembl 74_37 -1 novel nonsense c.802 p.E268* 0.027 NULL NULL - no_errors NPIPB7 HGNC ENSG00000233232 tier1 - - 137 0 0.00 93 43 31.39 NTRK1 0 genome.wustl.edu 37 1 156844776 156844776 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 156844776 156844776 C T SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.1330 p.R444W 1.000 prints_Tyr_kinase_neurotrophic_rcpt_1 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 - - 40 0 0.00 20 3 13.04 OBSCN 0 genome.wustl.edu 37 1 228467068 228467068 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 228467068 228467068 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.7319 p.R2440Q 0.059 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 122 0 0.00 181 15 7.65 OR51T1 0 genome.wustl.edu 37 11 4904034 4904034 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 11 4904034 4904034 G A SNP OR51T1 ENST00000380378 human ensembl 74_37 +1 known missense c.986 p.R329H 0.964 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51T1 HGNC ENSG00000176900 tier1 rs151076376 - 62 0 0.00 35 20 36.36 OR51V1 0 genome.wustl.edu 37 11 5221161 5221161 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 11 5221161 5221161 A G SNP OR51V1 ENST00000321255 human ensembl 74_37 -1 known missense c.770 p.V257A 0.664 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC ENSG00000176742 tier1 - - 81 0 0.00 56 5 8.20 PARVB 0 genome.wustl.edu 37 22 44515695 44515695 + RNA SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 22 44515695 44515695 G T SNP PARVB ENST00000402876 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors PARVB HGNC ENSG00000188677 tier1 - - 60 0 0.00 58 4 6.45 PIGN 0 genome.wustl.edu 37 18 59755997 59755997 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 18 59755997 59755997 A G SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.2362 p.F788L 1.000 pfam_GPI_EtnP_transferase_1_C pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 25 0 0.00 25 3 10.71 PLCB4 0 genome.wustl.edu 37 20 9440415 9440415 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 9440415 9440415 C T SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.3170 p.A1057V 0.625 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 tier1 - - 26 0 0.00 36 4 10.00 PLCZ1 0 genome.wustl.edu 37 12 18854614 18854614 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 18854614 18854614 C T SNP PLCZ1 ENST00000538330 human ensembl 74_37 -1 putative missense c.184 p.E62K 0.250 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_Pinositol-sp_Y,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 tier1 - - 37 0 0.00 27 4 12.90 PLXNA2 0 genome.wustl.edu 37 1 208200421 208200421 + RNA SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 208200421 208200421 C T SNP PLXNA2 ENST00000483048 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 49 0 0.00 44 4 8.33 PLXNA2 0 genome.wustl.edu 37 1 208225774 208225774 + Missense_Mutation SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 208225774 208225774 C A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.2891 p.G964V 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 66 0 0.00 60 4 6.25 PPRC1 0 genome.wustl.edu 37 10 103901475 103901475 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 10 103901475 103901475 G T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known silent c.3210 p.V1070 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 tier1 - - 33 0 0.00 12 6 33.33 PROCA1 0 genome.wustl.edu 37 17 27031779 27031779 + Silent SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 27031779 27031779 A G SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known silent c.180 p.C60 0.853 pfam_PLipase_A2,superfamily_PLipase_A2_dom pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PROCA1 HGNC ENSG00000167525 tier1 - - 39 0 0.00 48 11 18.64 PSD4 0 genome.wustl.edu 37 2 113958885 113958885 + Missense_Mutation SNP T T C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 2 113958885 113958885 T C SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.3064 p.S1022P 0.918 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 25 0 0.00 32 3 8.57 PTPN1 0 genome.wustl.edu 37 20 49195059 49195059 + Nonsense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 49195059 49195059 C T SNP PTPN1 ENST00000371621 human ensembl 74_37 +1 known nonsense c.595 p.R199* 0.969 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC ENSG00000196396 tier1 - - 42 0 0.00 67 6 8.22 RASGRF2 0 genome.wustl.edu 37 5 80382767 80382767 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 5 80382767 80382767 G A SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.1385 p.R462H 1.000 smart_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 tier1 - - 46 0 0.00 26 4 13.33 RIPK4 0 genome.wustl.edu 37 21 43171399 43171399 + Missense_Mutation SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 21 43171399 43171399 C A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.481 p.D161Y 1.000 pfam_Prot_kinase_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_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 tier1 - - 53 0 0.00 32 27 45.76 RPS14 0 genome.wustl.edu 37 5 149827255 149827255 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 5 149827255 149827255 G T SNP RPS14 ENST00000312037 human ensembl 74_37 -1 known silent c.42 p.V14 1.000 pirsf_Ribosomal_S11 pfam_Ribosomal_S11,pirsf_Ribosomal_S11 - no_errors RPS14 HGNC ENSG00000164587 tier1 - - 54 0 0.00 28 17 37.78 SCNM1 0 genome.wustl.edu 37 1 151139087 151139087 + RNA SNP T T C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 151139087 151139087 T C SNP SCNM1 ENST00000471039 human ensembl 74_37 +1 putative rna NULL NULL 0.028 - - - no_errors SCNM1 HGNC ENSG00000163156 tier1 - - 18 0 0.00 16 4 20.00 SEL1L2 0 genome.wustl.edu 37 20 13867034 13867034 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 13867034 13867034 G T SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.800 p.T267K 0.999 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 53 0 0.00 55 4 6.67 SENP6 0 genome.wustl.edu 37 6 76412676 76412676 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 6 76412676 76412676 G T SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known silent c.2604 p.A868 0.160 pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 21 0 0.00 21 2 8.70 SERINC3 0 genome.wustl.edu 37 20 43142614 43142614 + Missense_Mutation SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 43142614 43142614 G A SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known missense c.107 p.T36M 0.997 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 tier1 - - 64 0 0.00 65 4 5.80 SGIP1 0 genome.wustl.edu 37 1 67109411 67109412 + RNA DEL TG TG - TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 67109411 67109412 TG - DEL SGIP1 ENST00000483060 human ensembl 74_37 +1 known rna NULL NULL 0.058:0.051 - - - no_errors SGIP1 HGNC ENSG00000118473 tier1 52 0 0.00 26 2 7.14 SH3YL1 0 genome.wustl.edu 37 2 262569 262569 + RNA SNP T T A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 2 262569 262569 T A SNP SH3YL1 ENST00000468321 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SH3YL1 HGNC ENSG00000035115 tier1 - - 40 0 0.00 20 7 25.93 SLC37A2 0 genome.wustl.edu 37 11 124950542 124950542 + Missense_Mutation SNP A A C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 11 124950542 124950542 A C SNP SLC37A2 ENST00000308074 human ensembl 74_37 +1 known missense c.560 p.H187P 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 tier1 - - 56 0 0.00 29 4 12.12 SLC7A5 0 genome.wustl.edu 37 16 87868078 87868078 + Silent SNP G G C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 87868078 87868078 G C SNP SLC7A5 ENST00000261622 human ensembl 74_37 -1 known silent c.1410 p.P470 0.019 pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 tier1 - - 64 0 0.00 51 17 25.00 SLC9A8 0 genome.wustl.edu 37 20 48467300 48467301 + Frame_Shift_Ins INS - - T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 48467300 48467301 - T INS SLC9A8 ENST00000417961 human ensembl 74_37 +1 known frame_shift_ins c.536_537 p.F183fs 0.284:0.189 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 14 0 0.00 20 3 13.04 SMG1 0 genome.wustl.edu 37 16 18858815 18858815 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 18858815 18858815 C T SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.5956 p.D1986N 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 - - 38 0 0.00 42 6 12.50 SOGA2 0 genome.wustl.edu 37 18 8825247 8825247 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 18 8825247 8825247 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.3739 p.R1247W 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 49 0 0.00 50 18 26.47 SOX30 0 genome.wustl.edu 37 5 157075856 157075856 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 5 157075856 157075856 C T SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.1016 p.R339Q 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 tier1 - - 69 0 0.00 72 4 5.26 SPATA31D3 0 genome.wustl.edu 37 9 84562614 84562614 + RNA SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 9 84562614 84562614 G A SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D3 HGNC ENSG00000186788 47 0 0.00 33 3 8.33 SPEF2 0 genome.wustl.edu 37 5 35695845 35695845 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 5 35695845 35695845 G T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.1984 p.A662S 0.000 superfamily_P-loop_NTPase pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 66 0 0.00 70 4 5.41 SPG21 0 genome.wustl.edu 37 15 65267023 65267023 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 15 65267023 65267023 G T SNP SPG21 ENST00000204566 human ensembl 74_37 -1 known missense c.369 p.H123Q 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors SPG21 HGNC ENSG00000090487 tier1 - - 30 0 0.00 30 9 23.08 TBC1D10B 0 genome.wustl.edu 37 16 30370527 30370527 + Silent SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 30370527 30370527 C T SNP TBC1D10B ENST00000409939 human ensembl 74_37 -1 known silent c.1608 p.S536 0.797 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 tier1 - - 30 0 0.00 44 4 8.33 TENC1 0 genome.wustl.edu 37 12 53453482 53453482 + Missense_Mutation SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 53453482 53453482 C A SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.2087 p.A696D 0.006 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 tier1 - - 47 0 0.00 59 10 14.49 TEX10 0 genome.wustl.edu 37 9 103092356 103092356 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 9 103092356 103092356 G T SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.1346 p.T449N 1.000 superfamily_ARM-type_fold pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 tier1 - - 77 0 0.00 60 4 6.25 TFPI 0 genome.wustl.edu 37 2 188348894 188348894 + Missense_Mutation SNP A A T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 2 188348894 188348894 A T SNP TFPI ENST00000233156 human ensembl 74_37 -1 known missense c.585 p.N195K 0.003 pirsf_Prot_inhib_I2_TFPI pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 tier1 - - 32 0 0.00 29 5 14.71 TLR2 0 genome.wustl.edu 37 4 154625944 154625944 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 4 154625944 154625944 A G SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.1885 p.R629G 0.912 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 - - 64 0 0.00 51 4 7.27 TM9SF1 0 genome.wustl.edu 37 14 24661561 24661561 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 14 24661561 24661561 G T SNP TM9SF1 ENST00000556387 human ensembl 74_37 -1 known silent c.1596 p.G532 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 tier1 - - 59 0 0.00 50 4 7.41 TMEM132C 0 genome.wustl.edu 37 12 129153998 129153998 + Missense_Mutation SNP A A G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 12 129153998 129153998 A G SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.1342 p.K448E 0.981 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 74 0 0.00 44 5 10.20 TMF1 0 genome.wustl.edu 37 3 69088134 69088134 + Silent SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 3 69088134 69088134 C T SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known silent c.1863 p.E621 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 tier1 - - 35 0 0.00 18 4 18.18 TMOD3 0 genome.wustl.edu 37 15 52179895 52179895 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 15 52179895 52179895 G T SNP TMOD3 ENST00000308580 human ensembl 74_37 +1 known missense c.393 p.L131F 1.000 pfam_Tropomodulin pfam_Tropomodulin - no_errors TMOD3 HGNC ENSG00000138594 tier1 - - 51 0 0.00 44 4 8.33 TMPRSS4 0 genome.wustl.edu 37 11 117973848 117973848 + Missense_Mutation SNP T T A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 11 117973848 117973848 T A SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known missense c.190 p.C64S 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 tier1 - - 75 0 0.00 64 29 31.18 TP53 0 genome.wustl.edu 37 17 7577058 7577058 + Nonsense_Mutation SNP C C A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 17 7577058 7577058 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.880 p.E294* 0.015 NULL 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 tier1 - - 483 0 0.00 207 171 45.24 TSHZ3 0 genome.wustl.edu 37 19 31769449 31769449 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 19 31769449 31769449 G T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.1250 p.S417Y 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 60 0 0.00 27 2 6.90 UBN1 0 genome.wustl.edu 37 16 4921188 4921188 + Missense_Mutation SNP T T G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 4921188 4921188 T G SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known missense c.1592 p.L531R 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 tier1 - - 76 0 0.00 49 29 37.18 WDR20 0 genome.wustl.edu 37 14 102675610 102675610 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 14 102675610 102675610 G T SNP WDR20 ENST00000454394 human ensembl 74_37 +1 known missense c.1196 p.R399L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR20 HGNC ENSG00000140153 tier1 - - 47 0 0.00 42 4 8.70 WDR24 0 genome.wustl.edu 37 16 736118 736118 + Silent SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 736118 736118 G T SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known silent c.1791 p.L597 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 tier1 - - 49 0 0.00 52 4 7.14 WDR37 0 genome.wustl.edu 37 10 1142172 1142172 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 10 1142172 1142172 G T SNP WDR37 ENST00000263150 human ensembl 74_37 +1 known missense c.712 p.V238F 0.002 superfamily_WD40_repeat_dom,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_errors WDR37 HGNC ENSG00000047056 tier1 - - 71 0 0.00 53 4 7.02 ZC2HC1A 0 genome.wustl.edu 37 8 79609678 79609678 + Nonsense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 8 79609678 79609678 G T SNP ZC2HC1A ENST00000263849 human ensembl 74_37 +1 known nonsense c.541 p.G181* 0.997 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 49 0 0.00 51 3 5.56 ZC3H12C 0 genome.wustl.edu 37 11 110008026 110008026 + Silent SNP G G A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 11 110008026 110008026 G A SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known silent c.660 p.R220 0.998 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 81 0 0.00 55 3 5.17 ZFP36L2 0 genome.wustl.edu 37 2 43452439 43452440 + Frame_Shift_Ins INS - - CA TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 2 43452439 43452440 0 CA INS ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_ins c.504_503 p.K169fs 1.000:1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 72 0 0.00 93 10 9.71 ZGPAT 0 genome.wustl.edu 37 20 62366325 62366325 + RNA SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 62366325 62366325 G T SNP ZGPAT ENST00000478385 human ensembl 74_37 +1 known rna NULL NULL 0.333 - - - no_errors ZGPAT HGNC ENSG00000197114 tier1 - - 53 0 0.00 53 7 11.67 ZGPAT 0 genome.wustl.edu 37 20 62366327 62366327 + RNA SNP G G C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 62366327 62366327 G C SNP ZGPAT ENST00000478385 human ensembl 74_37 +1 known rna NULL NULL 0.159 - - - no_errors ZGPAT HGNC ENSG00000197114 tier1 - - 54 0 0.00 51 7 11.86 ZNF341 0 genome.wustl.edu 37 20 32377396 32377396 + Splice_Site SNP T T A TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 20 32377396 32377396 T A SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known splice_site c.2035+2 e14+2 1.000 - - - no_errors ZNF341 HGNC ENSG00000131061 tier1 - - 50 0 0.00 33 25 43.10 ZNF582 0 genome.wustl.edu 37 19 56895810 56895810 + Missense_Mutation SNP A A C TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 19 56895810 56895810 A C SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.976 p.L326V 0.000 pfam_Znf_C2H2,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 ZNF582 HGNC ENSG00000018869 tier1 - - 59 0 0.00 30 3 9.09 ZNF608 0 genome.wustl.edu 37 5 123984497 123984497 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 5 123984497 123984497 G T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.1580 p.S527Y 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 tier1 - - 78 0 0.00 66 4 5.71 ZNF684 0 genome.wustl.edu 37 1 41007085 41007086 + RNA INS - - ACCT TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 1 41007085 41007086 - ACCT INS ZNF684 ENST00000472043 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.004 - - - no_errors ZNF684 HGNC ENSG00000117010 tier1 20 0 0.00 16 3 15.79 ZNF804B 0 genome.wustl.edu 37 7 88965762 88965762 + Missense_Mutation SNP G G T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 88965762 88965762 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.3466 p.D1156Y 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 42 0 0.00 59 7 10.61 ZNF815P 0 genome.wustl.edu 37 7 5887309 5887309 + RNA SNP C C G TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 7 5887309 5887309 C G SNP ZNF815P ENST00000422825 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF815P HGNC ENSG00000235944 tier1 rs201257714 - 22 0 0.00 18 5 21.74 ZSCAN32 0 genome.wustl.edu 37 16 3433044 3433044 + Silent SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dc0442d2-daac-420a-a896-40c6d28acf91 f7ee30f1-f1a3-450b-9dd1-8bdd40875311 16 3433044 3433044 C T SNP ZSCAN32 ENST00000396846 human ensembl 74_37 -1 known silent c.1902 p.K634 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN32 HGNC ENSG00000140987 tier1 - - 134 0 0.00 140 8 5.37