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 101928757 0 genome.wustl.edu 37 10 17908632 17908632 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 10 17908632 17908632 G C SNP 101928757 ENST00000331429 human ensembl 74_37 +1 novel missense c.1845 p.L615F 0.994 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 tier1 - - 60 0 0.00 17 17 48.57 ABCA10 0 genome.wustl.edu 37 17 67193205 67193205 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 67193205 67193205 C T SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.1234 p.G412S 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 - - 46 0 0.00 24 10 29.41 ABCA3 0 genome.wustl.edu 37 16 2328323 2328323 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 2328323 2328323 C G SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.4684 p.E1562Q 0.999 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 - - 58 0 0.00 47 11 18.97 ACSS2 0 genome.wustl.edu 37 20 33515022 33515022 + RNA SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 20 33515022 33515022 G A SNP ACSS2 ENST00000476922 human ensembl 74_37 +1 known rna NULL NULL 0.772 - - - no_errors ACSS2 HGNC ENSG00000131069 tier1 - - 54 0 0.00 38 5 11.63 ACTR6 0 genome.wustl.edu 37 12 100603884 100603884 + Missense_Mutation SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 12 100603884 100603884 A G SNP ACTR6 ENST00000188312 human ensembl 74_37 +1 known missense c.413 p.D138G 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR6 HGNC ENSG00000075089 tier1 - - 51 0 0.00 34 7 17.07 ACVR1C 0 genome.wustl.edu 37 2 158390538 158390538 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 158390538 158390538 C T SNP ACVR1C ENST00000243349 human ensembl 74_37 -1 known silent c.1374 p.G458 0.799 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_Prot_kinase_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_dom - no_errors ACVR1C HGNC ENSG00000123612 tier1 - - 34 0 0.00 16 5 23.81 ADAMTS9 0 genome.wustl.edu 37 3 64636815 64636815 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 64636815 64636815 G T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.1341 p.N447K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 54 0 0.00 16 16 50.00 ADARB2 0 genome.wustl.edu 37 10 1229040 1229040 + RNA SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 10 1229040 1229040 T C SNP ADARB2 ENST00000474762 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADARB2 HGNC ENSG00000185736 tier1 - - 36 0 0.00 23 9 28.12 ADCK4 0 genome.wustl.edu 37 19 41206003 41206003 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 41206003 41206003 G T SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.1112 p.A371D 1.000 superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 tier1 - - 34 0 0.00 18 4 18.18 ADD2 0 genome.wustl.edu 37 2 70890767 70890767 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 70890767 70890767 C T SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known silent c.1971 p.T657 0.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 tier1 - - 56 0 0.00 43 13 23.21 ADORA2B 0 genome.wustl.edu 37 17 15878282 15878282 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 15878282 15878282 G T SNP ADORA2B ENST00000304222 human ensembl 74_37 +1 known missense c.625 p.A209S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2B_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2B HGNC ENSG00000170425 tier1 - - 72 0 0.00 71 4 5.26 AKR1A1 0 genome.wustl.edu 37 1 46035627 46035627 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 46035627 46035627 G A SNP AKR1A1 ENST00000351829 human ensembl 74_37 +1 known silent c.977 p.*326 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ENSG00000117448 tier1 - - 49 0 0.00 33 12 26.67 ANKRD34C 0 genome.wustl.edu 37 15 79586906 79586906 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 15 79586906 79586906 C T SNP ANKRD34C ENST00000421388 human ensembl 74_37 +1 known missense c.1280 p.P427L 0.955 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC ENSG00000235711 tier1 - - 33 0 0.00 15 16 51.61 ANO4 0 genome.wustl.edu 37 12 101295550 101295550 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 12 101295550 101295550 G A SNP ANO4 ENST00000538618 human ensembl 74_37 +1 known missense c.485 p.R162K 1.000 NULL NULL - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 34 0 0.00 11 7 36.84 ANXA1 0 genome.wustl.edu 37 9 75780136 75780136 + RNA SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 75780136 75780136 A G SNP ANXA1 ENST00000489109 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANXA1 HGNC ENSG00000135046 tier1 - - 31 0 0.00 19 20 51.28 AOC3 0 genome.wustl.edu 37 17 41006530 41006530 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 41006530 41006530 G C SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1666 p.E556Q 0.983 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 tier1 - - 92 0 0.00 41 26 38.81 APOE 0 genome.wustl.edu 37 19 45411884 45411884 + Missense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 45411884 45411884 C A SNP APOE ENST00000252486 human ensembl 74_37 +1 known missense c.331 p.L111M 0.010 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOE HGNC ENSG00000130203 tier1 - - 43 0 0.00 33 6 15.38 ARHGAP26 0 genome.wustl.edu 37 5 142513550 142513550 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 5 142513550 142513550 G T SNP ARHGAP26 ENST00000274498 human ensembl 74_37 +1 known missense c.1717 p.D573Y 0.990 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP26 HGNC ENSG00000145819 tier1 - - 90 0 0.00 33 37 52.86 ASTN2 0 genome.wustl.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 119976989 119976991 CAG - DEL ASTN2 ENST00000313400 human ensembl 74_37 -1 known in_frame_del c.663_661 p.L221in_frame_del 0.994:1.000:1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 39 0 0.00 13 2 13.33 ATN1 0 genome.wustl.edu 37 12 7046294 7046294 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 12 7046294 7046294 G C SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.1864 p.A622P 0.984 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 tier1 - - 29 0 0.00 19 28 59.57 ATP13A1 0 genome.wustl.edu 37 19 19766338 19766338 + Silent SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 19766338 19766338 T C SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known silent c.1395 p.E465 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 tier1 - - 72 0 0.00 39 14 25.93 B3GNT5 0 genome.wustl.edu 37 3 182987961 182987961 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 182987961 182987961 C G SNP B3GNT5 ENST00000326505 human ensembl 74_37 +1 known missense c.375 p.I125M 0.995 pfam_Glyco_trans_31 pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 tier1 - - 33 0 0.00 28 15 34.88 BNC2 0 genome.wustl.edu 37 9 16552681 16552681 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 16552681 16552681 G T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.516 p.S172R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 66 0 0.00 57 4 6.56 BRD4 0 genome.wustl.edu 37 19 15367010 15367010 + Missense_Mutation SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 15367010 15367010 T C SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.1616 p.K539R 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 tier1 - - 78 0 0.00 52 31 37.35 BSG 0 genome.wustl.edu 37 19 577776 577776 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 577776 577776 G A SNP BSG ENST00000333511 human ensembl 74_37 +1 known missense c.70 p.G24S 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BSG HGNC ENSG00000172270 tier1 - - 16 0 0.00 9 4 30.77 BTG3 0 genome.wustl.edu 37 21 18977308 18977308 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 21 18977308 18977308 G T SNP BTG3 ENST00000339775 human ensembl 74_37 -1 known missense c.181 p.R61S 1.000 pfam_Anti_prolifrtn,smart_Anti_prolifrtn pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG3 HGNC ENSG00000154640 43 0 0.00 29 2 6.45 C16orf78 0 genome.wustl.edu 37 16 49430446 49430446 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 49430446 49430446 G C SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known missense c.507 p.Q169H 0.002 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 tier1 - - 28 0 0.00 21 8 27.59 C1QC 0 genome.wustl.edu 37 1 22974181 22974181 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 22974181 22974181 G A SNP C1QC ENST00000374637 human ensembl 74_37 +1 known missense c.643 p.E215K 0.489 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 tier1 - - 54 0 0.00 27 12 30.77 C1orf172 0 genome.wustl.edu 37 1 27278224 27278224 + Nonsense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 27278224 27278224 G C SNP C1orf172 ENST00000320567 human ensembl 74_37 -1 known nonsense c.648 p.Y216* 1.000 NULL NULL - no_errors C1orf172 HGNC ENSG00000175707 tier1 - - 51 0 0.00 27 6 18.18 C3 0 genome.wustl.edu 37 19 6697514 6697514 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 6697514 6697514 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known silent c.2637 p.K879 0.969 NULL 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 - - 100 0 0.00 73 42 36.52 C4orf27 0 genome.wustl.edu 37 4 170652975 170652975 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 170652975 170652975 C G SNP C4orf27 ENST00000393381 human ensembl 74_37 -1 known missense c.789 p.E263D 1.000 pfam_DUF2228_C2H2_APLF-like pfam_DUF2228_C2H2_APLF-like - no_errors C4orf27 HGNC ENSG00000056050 tier1 - - 59 0 0.00 62 26 29.55 C6orf25 0 genome.wustl.edu 37 6 31692525 31692525 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 31692525 31692525 C T SNP C6orf25 ENST00000375809 human ensembl 74_37 +1 known silent c.544 p.L182 1.000 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 tier1 - - 30 0 0.00 18 9 33.33 C8G 0 genome.wustl.edu 37 9 139841200 139841200 + RNA SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 139841200 139841200 G C SNP C8G ENST00000465773 human ensembl 74_37 +1 known rna NULL NULL 0.281 - - - no_errors C8G HGNC ENSG00000176919 tier1 - - 88 0 0.00 43 23 34.85 CACNA1B 0 genome.wustl.edu 37 9 141016131 141016131 + Nonsense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 141016131 141016131 G T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known nonsense c.6703 p.E2235* 0.998 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 tier1 - - 51 0 0.00 16 12 42.86 CACNA1H 0 genome.wustl.edu 37 16 1261716 1261716 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 1261716 1261716 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.4477 p.A1493T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 - - 35 0 0.00 44 6 12.00 CARD8 0 genome.wustl.edu 37 19 48685630 48685631 + RNA INS - - A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 48685630 48685631 - A INS CARD8 ENST00000600800 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors CARD8 HGNC ENSG00000105483 tier1 14 0 0.00 12 3 20.00 CASP8 0 genome.wustl.edu 37 2 202149834 202149834 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 202149834 202149834 G T SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.1275 p.Q425H 0.002 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 tier1 - - 41 0 0.00 9 12 57.14 CASP8 0 genome.wustl.edu 37 2 202149919 202149919 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 202149919 202149919 G C SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.1360 p.D454H 0.004 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10 pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 tier1 - - 54 0 0.00 19 17 47.22 CCDC178 0 genome.wustl.edu 37 18 30873263 30873263 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 18 30873263 30873263 G T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.1036 p.Q346K 0.002 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 34 0 0.00 20 3 13.04 CCDC34 0 genome.wustl.edu 37 11 27384468 27384468 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 27384468 27384468 C T SNP CCDC34 ENST00000328697 human ensembl 74_37 -1 known missense c.274 p.D92N 0.215 NULL NULL - no_errors CCDC34 HGNC ENSG00000109881 tier1 - - 39 0 0.00 26 11 29.73 CCDC62 0 genome.wustl.edu 37 12 123286164 123286164 + Nonsense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 12 123286164 123286164 G T SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known nonsense c.1471 p.E491* 0.011 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 tier1 - - 61 0 0.00 38 10 20.83 CCDC67 0 genome.wustl.edu 37 11 93141459 93141459 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 93141459 93141459 G A SNP CCDC67 ENST00000298050 human ensembl 74_37 +1 known silent c.1389 p.E463 1.000 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 tier1 - - 29 0 0.00 11 8 42.11 CD22 0 genome.wustl.edu 37 19 35828840 35828840 + Missense_Mutation SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 35828840 35828840 A G SNP CD22 ENST00000085219 human ensembl 74_37 +1 known missense c.901 p.K301E 0.494 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 tier1 - - 55 0 0.00 43 5 10.42 CD38 0 genome.wustl.edu 37 4 15780234 15780234 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 15780234 15780234 G C SNP CD38 ENST00000226279 human ensembl 74_37 +1 known missense c.197 p.R66P 0.027 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 tier1 - - 73 0 0.00 31 25 44.64 CDR2 0 genome.wustl.edu 37 16 22358728 22358728 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 22358728 22358728 C T SNP CDR2 ENST00000268383 human ensembl 74_37 -1 known missense c.923 p.R308H 1.000 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 tier1 - - 46 0 0.00 53 6 10.17 CELSR2 0 genome.wustl.edu 37 1 109801662 109801662 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 109801662 109801662 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3919 p.E1307K 0.998 smart_EGF-like_Ca-bd_dom,smart_EG-like_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 CELSR2 HGNC ENSG00000143126 15 0 0.00 10 2 16.67 CENPE 0 genome.wustl.edu 37 4 104065534 104065534 + Missense_Mutation SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 104065534 104065534 A G SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.5099 p.V1700A 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 48 0 0.00 33 22 40.00 CFP 0 genome.wustl.edu 37 X 47486320 47486320 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d X 47486320 47486320 G A SNP CFP ENST00000247153 human ensembl 74_37 -1 known silent c.792 p.G264 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 tier1 - - 22 0 0.00 8 10 55.56 CGN 0 genome.wustl.edu 37 1 151491113 151491113 + Nonsense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 151491113 151491113 C T SNP CGN ENST00000271636 human ensembl 74_37 +1 known nonsense c.118 p.R40* 0.869 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 tier1 - - 57 0 0.00 55 8 12.70 CHD5 0 genome.wustl.edu 37 1 6202187 6202187 + Splice_Site SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 6202187 6202187 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known splice_site c.2436+1 e15+1 1.000 - - - no_errors CHD5 HGNC ENSG00000116254 tier1 - - 39 0 0.00 16 15 48.39 CIZ1 0 genome.wustl.edu 37 9 130931405 130931405 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 130931405 130931405 C T SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known missense c.2299 p.E767K 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 tier1 - - 63 0 0.00 33 14 29.79 CLINT1 0 genome.wustl.edu 37 5 157214829 157214829 + Missense_Mutation SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 5 157214829 157214829 T C SNP CLINT1 ENST00000296951 human ensembl 74_37 -1 known missense c.1703 p.N568S 0.065 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors CLINT1 HGNC ENSG00000113282 tier1 - - 54 0 0.00 19 29 60.42 COBLL1 0 genome.wustl.edu 37 2 165559719 165559719 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 165559719 165559719 G A SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.1435 p.P479S 0.276 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 tier1 - - 37 0 0.00 29 12 29.27 COL4A3 0 genome.wustl.edu 37 2 228111451 228111451 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 228111451 228111451 C T SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known silent c.438 p.I146 0.785 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 48 0 0.00 45 15 25.00 CORO2B 0 genome.wustl.edu 37 15 68987554 68987554 + Missense_Mutation SNP T T A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 15 68987554 68987554 T A SNP CORO2B ENST00000566799 human ensembl 74_37 +1 known missense c.292 p.F98I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2B HGNC ENSG00000103647 tier1 - - 22 0 0.00 17 7 29.17 CXADR 0 genome.wustl.edu 37 21 18938008 18938008 + Nonstop_Mutation SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 21 18938008 18938008 T C SNP CXADR ENST00000284878 human ensembl 74_37 +1 known nonstop c.1096 p.*366Q 0.999 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CXADR HGNC ENSG00000154639 tier1 - - 40 0 0.00 26 12 30.77 CXCR4 0 genome.wustl.edu 37 2 136872988 136872988 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 136872988 136872988 G A SNP CXCR4 ENST00000409817 human ensembl 74_37 -1 known silent c.522 p.P174 0.015 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N_dom,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 tier1 - - 58 0 0.00 27 20 42.55 CYP2B6 0 genome.wustl.edu 37 19 41515957 41515957 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 41515957 41515957 C T SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known missense c.881 p.S294L 0.001 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I 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 tier1 - - 114 0 0.00 58 57 49.57 DAAM1 0 genome.wustl.edu 37 14 59834304 59834304 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 59834304 59834304 G A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.3014 p.R1005H 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 tier1 rs199742099 - 24 0 0.00 21 14 40.00 DDAH2 0 genome.wustl.edu 37 6 31696815 31696815 + Nonsense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 31696815 31696815 G A SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known nonsense c.124 p.Q42* 1.000 NULL pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 tier1 - - 52 0 0.00 46 8 14.81 DDX39B 0 genome.wustl.edu 37 6 31498374 31498374 + RNA SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 31498374 31498374 G A SNP DDX39B ENST00000462421 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DDX39B HGNC ENSG00000198563 tier1 - - 15 0 0.00 8 10 55.56 DECR2 0 genome.wustl.edu 37 16 460221 460221 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 460221 460221 C T SNP DECR2 ENST00000397710 human ensembl 74_37 +1 known missense c.503 p.S168F 0.000 NULL pfam_DH_sc/Rdtase_SDR - no_errors DECR2 HGNC ENSG00000242612 tier1 - - 37 0 0.00 13 10 43.48 DIP2A 0 genome.wustl.edu 37 21 47970533 47970533 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 21 47970533 47970533 C T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.2718 p.L906 0.003 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 67 0 0.00 30 13 30.23 DNAH8 0 genome.wustl.edu 37 6 38743696 38743696 + Missense_Mutation SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 38743696 38743696 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.1280 p.L427S 0.072 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 44 0 0.00 32 4 11.11 DNM1 0 genome.wustl.edu 37 9 130996366 130996366 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 130996366 130996366 G A SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.1402 p.E468K 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 tier1 - - 62 0 0.00 24 14 36.84 DOK4 0 genome.wustl.edu 37 16 57513551 57513551 + RNA SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 57513551 57513551 C G SNP DOK4 ENST00000561918 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DOK4 HGNC ENSG00000125170 tier1 - - 104 0 0.00 62 25 28.74 DSPP 0 genome.wustl.edu 37 4 88536238 88536238 + Silent SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 88536238 88536238 T C SNP DSPP ENST00000282478 human ensembl 74_37 +1 known silent c.2424 p.D808 0.012 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 - - 176 0 0.00 113 6 5.04 DSPP 0 genome.wustl.edu 37 4 88536271 88536271 + Missense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 88536271 88536271 C A SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.2457 p.D819E 0.000 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 - - 176 0 0.00 96 6 5.88 DYNC2H1 0 genome.wustl.edu 37 11 103158284 103158284 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 103158284 103158284 G C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.11066 p.R3689T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 42 0 0.00 9 19 67.86 E2F3 0 genome.wustl.edu 37 6 20490452 20490452 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 20490452 20490452 C G SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known missense c.1189 p.L397V 0.960 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 tier1 - - 83 0 0.00 46 28 37.84 EAF2 0 genome.wustl.edu 37 3 121591519 121591519 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 121591519 121591519 C G SNP EAF2 ENST00000273668 human ensembl 74_37 +1 known missense c.620 p.S207C 0.129 NULL pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 tier1 - - 37 0 0.00 19 11 35.48 ENO1 0 genome.wustl.edu 37 1 8928111 8928111 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 8928111 8928111 C T SNP ENO1 ENST00000234590 human ensembl 74_37 -1 known silent c.246 p.L82 0.875 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000074800 tier1 - - 49 0 0.00 35 7 16.67 ENSG00000267439 0 genome.wustl.edu 37 19 36243179 36243179 + RNA SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 36243179 36243179 G A SNP ENSG00000267439 ENST00000591091 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002398.11 Clone_based_vega_gene ENSG00000267439 tier1 - - 59 0 0.00 19 8 29.63 ENSG00000272056 0 genome.wustl.edu 37 2 27276570 27276570 + RNA SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 27276570 27276570 C T SNP ENSG00000272056 ENST00000607407 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-503P10.1 Clone_based_vega_gene ENSG00000272056 tier1 - - 46 0 0.00 17 8 32.00 ENSG00000272656 0 genome.wustl.edu 37 3 139068148 139068149 + RNA INS - - T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 139068148 139068149 - T INS ENSG00000272656 ENST00000608472 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-219D15.3 Clone_based_vega_gene ENSG00000272656 tier1 46 0 0.00 25 3 10.71 EPS8L3 0 genome.wustl.edu 37 1 110300579 110300580 + Frame_Shift_Ins INS - - T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 110300579 110300580 - T INS EPS8L3 ENST00000369805 human ensembl 74_37 -1 known frame_shift_ins c.822_821 p.N274fs 0.016:0.352 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 tier1 125 0 0.00 104 18 14.75 ERCC4 0 genome.wustl.edu 37 16 14029602 14029602 + Splice_Site SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 14029602 14029602 C A SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known splice_site c.1811+2 e8+2 1.000 - - - no_errors ERCC4 HGNC ENSG00000175595 tier1 - - 42 0 0.00 26 5 16.13 EXOC1 0 genome.wustl.edu 37 4 56737000 56737000 + Nonsense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 56737000 56737000 G T SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known nonsense c.760 p.E254* 0.999 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 tier1 - - 35 0 0.00 17 3 15.00 EXOC8 0 genome.wustl.edu 37 1 231472549 231472549 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 231472549 231472549 C T SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known missense c.943 p.D315N 0.160 NULL superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 tier1 - - 47 0 0.00 40 14 25.93 F2 0 genome.wustl.edu 37 11 46749672 46749672 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 46749672 46749672 G A SNP F2 ENST00000311907 human ensembl 74_37 +1 known silent c.1257 p.E419 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1,prints_Prothrombin/thrombin 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 - - 39 0 0.00 25 15 37.50 FADD 0 genome.wustl.edu 37 11 70049577 70049577 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 70049577 70049577 C G SNP FADD ENST00000301838 human ensembl 74_37 +1 known missense c.12 p.F4L 0.868 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pirsf_FADD,pfscan_DED pfam_Death_domain,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Death_domain,pirsf_FADD,pfscan_Death_domain,pfscan_DED - no_errors FADD HGNC ENSG00000168040 tier1 - - 59 0 0.00 246 14 5.38 FADD 0 genome.wustl.edu 37 11 70049640 70049640 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 70049640 70049640 C T SNP FADD ENST00000301838 human ensembl 74_37 +1 known silent c.75 p.F25 0.999 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pirsf_FADD,pfscan_DED pfam_Death_domain,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Death_domain,pirsf_FADD,pfscan_Death_domain,pfscan_DED - no_errors FADD HGNC ENSG00000168040 tier1 - - 70 0 0.00 331 24 6.76 FAM162A 0 genome.wustl.edu 37 3 122121698 122121698 + Silent SNP A A C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 122121698 122121698 A C SNP FAM162A ENST00000477892 human ensembl 74_37 +1 known silent c.126 p.T42 0.916 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162A HGNC ENSG00000114023 tier1 - - 54 0 0.00 43 9 17.31 FAM179B 0 genome.wustl.edu 37 14 45515859 45515859 + Missense_Mutation SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 45515859 45515859 A G SNP FAM179B ENST00000361462 human ensembl 74_37 +1 novel missense c.4266 p.I1422M 0.934 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 tier1 - - 44 0 0.00 37 21 36.21 FAM194B 0 genome.wustl.edu 37 13 46124142 46124142 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 13 46124142 46124142 G A SNP FAM194B ENST00000298738 human ensembl 74_37 -1 known missense c.1532 p.A511V 0.000 NULL NULL - no_errors FAM194B HGNC ENSG00000165837 tier1 - - 83 0 0.00 35 39 52.70 FAM195B 0 genome.wustl.edu 37 17 79782177 79782177 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 79782177 79782177 C T SNP FAM195B ENST00000455127 human ensembl 74_37 -1 known missense c.113 p.R38H 1.000 NULL NULL - no_errors FAM195B HGNC ENSG00000225663 tier1 - - 159 0 0.00 109 13 10.66 FAP 0 genome.wustl.edu 37 2 163031461 163031461 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 163031461 163031461 C T SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.1885 p.V629I 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 tier1 rs141879753 - 50 0 0.00 26 6 18.75 FBN1 0 genome.wustl.edu 37 15 48936865 48936865 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 15 48936865 48936865 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.102 p.V34 0.993 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 70 0 0.00 36 31 46.27 FMN1 0 genome.wustl.edu 37 15 33096524 33096524 + Missense_Mutation SNP T T A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 15 33096524 33096524 T A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.3269 p.E1090V 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 tier1 - - 67 0 0.00 31 6 16.22 FMN1 0 genome.wustl.edu 37 15 33096525 33096525 + Nonsense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 15 33096525 33096525 C A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known nonsense c.3268 p.E1090* 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 tier1 - - 67 0 0.00 31 6 16.22 FREM3 0 genome.wustl.edu 37 4 144620474 144620474 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 144620474 144620474 G T SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.1355 p.S452Y 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 100 0 0.00 72 4 5.26 FSTL5 0 genome.wustl.edu 37 4 162680564 162680564 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 162680564 162680564 G C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.726 p.F242L 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 38 0 0.00 33 11 25.00 GFM1 0 genome.wustl.edu 37 3 158363966 158363966 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 158363966 158363966 G C SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known missense c.247 p.D83H 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 tier1 - - 95 0 0.00 103 36 25.90 GPR112 0 genome.wustl.edu 37 X 135429365 135429365 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d X 135429365 135429365 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.3500 p.T1167I 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 38 0 0.00 31 7 18.42 GPR89A 0 genome.wustl.edu 37 1 145811926 145811927 + Frame_Shift_Ins INS - - A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 145811926 145811927 - A INS GPR89A ENST00000313835 human ensembl 74_37 -1 known frame_shift_ins c.283_282 p.G94fs 1.000:1.000 NULL pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom - no_errors GPR89A HGNC ENSG00000117262 tier1 29 0 0.00 35 12 25.53 GTF2F1 0 genome.wustl.edu 37 19 6380476 6380476 + Missense_Mutation SNP T T G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 6380476 6380476 T G SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known missense c.1370 p.D457A 0.994 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 tier1 - - 138 0 0.00 67 48 41.74 GTF3C1 0 genome.wustl.edu 37 16 27481557 27481557 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 27481557 27481557 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.4686 p.D1562 0.955 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 tier1 - - 63 0 0.00 52 23 30.67 HAUS5 0 genome.wustl.edu 37 19 36110935 36110935 + Silent SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 36110935 36110935 C A SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known silent c.1428 p.V476 0.696 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 70 0 0.00 51 3 5.56 HDAC4 0 genome.wustl.edu 37 2 239975285 239975285 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 239975285 239975285 C G SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.3086 p.R1029P 1.000 pfam_Arb2_domain,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 - - 103 0 0.00 50 48 48.98 HEATR6 0 genome.wustl.edu 37 17 58153567 58153567 + Missense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 58153567 58153567 C A SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.251 p.R84L 0.988 NULL superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 tier1 - - 25 0 0.00 12 15 55.56 HEYL 0 genome.wustl.edu 37 1 40092514 40092514 + Nonsense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 40092514 40092514 G A SNP HEYL ENST00000372852 human ensembl 74_37 -1 known nonsense c.652 p.R218* 0.066 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEYL HGNC ENSG00000163909 tier1 - - 71 0 0.00 39 28 41.79 HIBCH 0 genome.wustl.edu 37 2 191161574 191161574 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 191161574 191161574 G A SNP HIBCH ENST00000359678 human ensembl 74_37 -1 known missense c.184 p.L62F 0.148 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam - no_errors HIBCH HGNC ENSG00000198130 tier1 - - 87 0 0.00 60 15 20.00 HIST1H3B 0 genome.wustl.edu 37 6 26031889 26031889 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 26031889 26031889 C G SNP HIST1H3B ENST00000244661 human ensembl 74_37 -1 known missense c.400 p.E134Q 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 tier1 - - 61 0 0.00 35 12 25.53 HMCN1 0 genome.wustl.edu 37 1 186106700 186106700 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 186106700 186106700 G C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13653 p.K4551N 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 44 0 0.00 34 4 10.53 HNRNPA0 0 genome.wustl.edu 37 5 137089438 137089438 + Silent SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 5 137089438 137089438 T C SNP HNRNPA0 ENST00000314940 human ensembl 74_37 -1 known silent c.318 p.K106 0.824 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA0 HGNC ENSG00000177733 tier1 - - 26 0 0.00 15 18 54.55 HYDIN 0 genome.wustl.edu 37 16 70841857 70841857 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 70841857 70841857 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.14992 p.E4998K 0.999 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 58 0 0.00 18 18 50.00 IGFL2 0 genome.wustl.edu 37 19 46664041 46664041 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 46664041 46664041 G C SNP IGFL2 ENST00000434646 human ensembl 74_37 +1 known missense c.277 p.D93H 0.000 NULL NULL - no_errors IGFL2 HGNC ENSG00000204866 tier1 - - 79 0 0.00 51 28 35.44 IL1B 0 genome.wustl.edu 37 2 113593181 113593181 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 113593181 113593181 C T SNP IL1B ENST00000263341 human ensembl 74_37 -1 known missense c.61 p.D21N 0.097 pfam_IL-1_propep,prints_IL-1_beta pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36 - no_errors IL1B HGNC ENSG00000125538 tier1 - - 72 0 0.00 21 21 50.00 IL1B 0 genome.wustl.edu 37 2 113593774 113593774 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 113593774 113593774 C T SNP IL1B ENST00000263341 human ensembl 74_37 -1 known missense c.33 p.M11I 0.003 pfam_IL-1_propep pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36 - no_errors IL1B HGNC ENSG00000125538 tier1 - - 33 0 0.00 13 10 43.48 INGX 0 genome.wustl.edu 37 X 70712092 70712092 + RNA SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d X 70712092 70712092 G C SNP INGX ENST00000489074 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors INGX HGNC ENSG00000243468 tier1 - - 27 0 0.00 14 8 36.36 ISM1 0 genome.wustl.edu 37 20 13280008 13280009 + Frame_Shift_Ins INS - - A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 20 13280008 13280009 - A INS ISM1 ENST00000262487 human ensembl 74_37 +1 known frame_shift_ins c.1297_1298 p.Y433fs 1.000:1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 tier1 25 0 0.00 6 5 45.45 JUP 0 genome.wustl.edu 37 17 39921275 39921275 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 39921275 39921275 G C SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.954 p.I318M 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 27 0 0.00 27 3 10.00 KATNBL1P6 0 genome.wustl.edu 37 6 147123814 147123815 + RNA INS - - A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 147123814 147123815 - A INS KATNBL1P6 ENST00000562413 human ensembl 74_37 -1 known rna NULL NULL 0.020:0.033 - - - no_errors KATNBL1P6 HGNC ENSG00000228283 tier1 57 0 0.00 26 5 16.13 KCNA4 0 genome.wustl.edu 37 11 30034490 30034490 + RNA SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 30034490 30034490 C T SNP KCNA4 ENST00000526518 human ensembl 74_37 -1 putative rna NULL NULL 0.029 - - - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 47 0 0.00 14 14 50.00 KIAA0947 0 genome.wustl.edu 37 5 5465103 5465103 + Nonsense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 5 5465103 5465103 G T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known nonsense c.5656 p.E1886* 0.011 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 33 0 0.00 42 5 10.64 KIAA0947 0 genome.wustl.edu 37 5 5473686 5473686 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 5 5473686 5473686 G A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.6238 p.V2080I 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 29 0 0.00 51 7 12.07 KIF2C 0 genome.wustl.edu 37 1 45228229 45228229 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 45228229 45228229 G C SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.1870 p.E624Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2C HGNC ENSG00000142945 tier1 - - 33 0 0.00 22 6 21.43 KPNA3 0 genome.wustl.edu 37 13 50366638 50366638 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 13 50366638 50366638 G T SNP KPNA3 ENST00000261667 human ensembl 74_37 -1 known missense c.5 p.A2D 1.000 pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 tier1 - - 61 0 0.00 42 4 8.70 KRTAP5-5 0 genome.wustl.edu 37 11 1651712 1651712 + Silent SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 1651712 1651712 A G SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known silent c.642 p.Q214 0.996 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 179 0 0.00 132 16 10.81 KRTAP5-5 0 genome.wustl.edu 37 11 1651723 1651723 + Missense_Mutation SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 1651723 1651723 A G SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known missense c.653 p.Y218C 0.999 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 182 0 0.00 138 17 10.97 KRTAP5-5 0 genome.wustl.edu 37 11 1651724 1651724 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 1651724 1651724 C T SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known silent c.654 p.Y218 0.999 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 - - 180 0 0.00 140 16 10.26 KTN1 0 genome.wustl.edu 37 14 56120290 56120290 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 56120290 56120290 C T SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.2777 p.S926L 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 tier1 - - 29 0 0.00 16 7 30.43 LEPR 0 genome.wustl.edu 37 1 66075661 66075661 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 66075661 66075661 C T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.1784 p.S595F 0.121 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 tier1 - - 86 0 0.00 37 36 49.32 LILRA5 0 genome.wustl.edu 37 19 54823234 54823234 + Silent SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 54823234 54823234 G T SNP LILRA5 ENST00000301219 human ensembl 74_37 -1 known silent c.309 p.I103 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2 - no_errors LILRA5 HGNC ENSG00000187116 tier1 - - 71 0 0.00 50 5 9.09 LLGL1 0 genome.wustl.edu 37 17 18133339 18133339 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 18133339 18133339 G A SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.166 p.G56R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 tier1 - - 68 0 0.00 17 31 64.58 LYG1 0 genome.wustl.edu 37 2 99912118 99912118 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 99912118 99912118 G T SNP LYG1 ENST00000308528 human ensembl 74_37 -1 known missense c.16 p.L6M 1.000 pirsf_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC ENSG00000144214 36 0 0.00 37 2 5.13 LYST 0 genome.wustl.edu 37 1 235922855 235922855 + Missense_Mutation SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 235922855 235922855 T C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.6298 p.M2100V 0.005 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 21 0 0.00 23 6 20.69 MALAT1 0 genome.wustl.edu 37 11 65266086 65266086 + RNA SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 65266086 65266086 G T SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 - - 33 0 0.00 18 3 14.29 MAP3K5 0 genome.wustl.edu 37 6 137019722 137019722 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 137019722 137019722 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.711 p.L237 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 30 0 0.00 17 20 54.05 MED1 0 genome.wustl.edu 37 17 37566025 37566025 + Nonsense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 37566025 37566025 G A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known nonsense c.2449 p.Q817* 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 tier1 - - 70 0 0.00 37 11 22.92 MORC1 0 genome.wustl.edu 37 3 108776315 108776315 + Missense_Mutation SNP T T G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 108776315 108776315 T G SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.1050 p.R350S 0.999 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 23 0 0.00 20 4 16.67 MPC1 0 genome.wustl.edu 37 6 166778737 166778737 + RNA SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 166778737 166778737 T C SNP MPC1 ENST00000487218 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors MPC1 HGNC ENSG00000060762 tier1 - - 35 0 0.00 8 10 55.56 MUC4 0 genome.wustl.edu 37 3 195511236 195511236 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 195511236 195511236 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.7215 p.D2405E 0.492 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 - - 500 0 0.00 586 55 8.58 MYO7B 0 genome.wustl.edu 37 2 128350402 128350402 + Nonsense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 128350402 128350402 C T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known nonsense c.2026 p.R676* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 83 0 0.00 45 15 25.00 NDN 0 genome.wustl.edu 37 15 23931422 23931422 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 15 23931422 23931422 G A SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.943 p.R315C 0.347 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 tier1 - - 40 0 0.00 26 9 25.71 NEURL4 0 genome.wustl.edu 37 17 7221920 7221920 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 7221920 7221920 G A SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.3758 p.S1253F 0.773 pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 tier1 - - 101 0 0.00 46 38 45.24 NFE2L2 0 genome.wustl.edu 37 2 178098810 178098810 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 178098810 178098810 C G SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.235 p.E79Q 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 132 0 0.00 97 30 23.62 NFXL1 0 genome.wustl.edu 37 4 47900008 47900008 + Frame_Shift_Del DEL T T - TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 47900008 47900008 T - DEL NFXL1 ENST00000381538 human ensembl 74_37 -1 known frame_shift_del c.1180 p.R394fs 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 tier1 14 0 0.00 21 3 12.50 NGEF 0 genome.wustl.edu 37 2 233752783 233752783 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 233752783 233752783 C T SNP NGEF ENST00000264051 human ensembl 74_37 -1 known missense c.1307 p.R436Q 0.636 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 tier1 - - 89 0 0.00 70 23 24.73 NIN 0 genome.wustl.edu 37 14 51224041 51224041 + Missense_Mutation SNP T T A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 51224041 51224041 T A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.3707 p.K1236M 0.052 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 30 0 0.00 28 12 30.00 NLRC3 0 genome.wustl.edu 37 16 3593431 3593431 + Missense_Mutation SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 3593431 3593431 A G SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.3071 p.I1024T 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 53 0 0.00 37 12 24.49 NSD1 0 genome.wustl.edu 37 5 176719054 176719054 + Nonsense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 5 176719054 176719054 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known nonsense c.6358 p.E2120* 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 47 0 0.00 18 16 47.06 NT5DC2 0 genome.wustl.edu 37 3 52559074 52559074 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 52559074 52559074 C T SNP NT5DC2 ENST00000422318 human ensembl 74_37 -1 known missense c.1252 p.E418K 0.999 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC2 HGNC ENSG00000168268 tier1 - - 13 0 0.00 3 4 57.14 NWD1 0 genome.wustl.edu 37 19 16884031 16884031 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 16884031 16884031 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known silent c.2505 p.Q835 0.916 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 55 0 0.00 20 20 50.00 OR1M1 0 genome.wustl.edu 37 19 9204692 9204692 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 9204692 9204692 G A SNP OR1M1 ENST00000429566 human ensembl 74_37 +1 known missense c.772 p.V258I 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1M1 HGNC ENSG00000170929 tier1 rs144608760 - 47 0 0.00 37 8 17.78 OR2M4 0 genome.wustl.edu 37 1 248402808 248402808 + Missense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 248402808 248402808 C A SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.578 p.S193Y 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC ENSG00000171180 tier1 - - 78 0 0.00 64 26 28.89 PAPLN 0 genome.wustl.edu 37 14 73739372 73739372 + Nonstop_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 73739372 73739372 G T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known nonstop c.3837 p.*1279Y 1.000 NULL pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 tier1 - - 57 0 0.00 39 4 9.30 PAPPA2 0 genome.wustl.edu 37 1 176564460 176564460 + Missense_Mutation SNP A A C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 176564460 176564460 A C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1720 p.N574H 1.000 smart_Notch_dom pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,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 PAPPA2 HGNC ENSG00000116183 tier1 - - 65 0 0.00 38 15 28.30 PARP10 0 genome.wustl.edu 37 8 145057845 145057845 + Nonsense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 8 145057845 145057845 C A SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known nonsense c.1912 p.E638* 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 tier1 - - 82 0 0.00 55 48 46.60 PARP4 0 genome.wustl.edu 37 13 25058793 25058793 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 13 25058793 25058793 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.1446 p.L482 0.998 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 - - 89 0 0.00 64 23 26.44 PCCB 0 genome.wustl.edu 37 3 136045208 136045208 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 136045208 136045208 G A SNP PCCB ENST00000466072 human ensembl 74_37 +1 putative silent c.1131 p.Q377 0.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 tier1 - - 107 0 0.00 38 45 54.22 PCDHGA7 0 genome.wustl.edu 37 5 140764474 140764474 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 5 140764474 140764474 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.2008 p.E670K 0.689 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 tier1 - - 109 0 0.00 27 36 57.14 PDCL 0 genome.wustl.edu 37 9 125582567 125582567 + Missense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 125582567 125582567 C A SNP PDCL ENST00000259467 human ensembl 74_37 -1 known missense c.703 p.A235S 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 tier1 - - 35 0 0.00 24 5 17.24 PDLIM5 0 genome.wustl.edu 37 4 95497125 95497125 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 95497125 95497125 C T SNP PDLIM5 ENST00000317968 human ensembl 74_37 +1 known missense c.650 p.S217F 1.000 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 tier1 - - 36 0 0.00 21 6 22.22 PIGW 0 genome.wustl.edu 37 17 34893992 34893992 + Missense_Mutation SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 34893992 34893992 A G SNP PIGW ENST00000328396 human ensembl 74_37 +1 known missense c.1042 p.I348V 0.001 pfam_GWT1,pirsf_GWT1 pfam_GWT1,pirsf_GWT1 - no_errors PIGW HGNC ENSG00000184886 43 0 0.00 29 8 21.62 PLBD1 0 genome.wustl.edu 37 12 14659951 14659951 + Missense_Mutation SNP A A C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 12 14659951 14659951 A C SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.1288 p.L430V 0.963 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 tier1 - - 35 0 0.00 49 9 15.52 PLEKHA8 0 genome.wustl.edu 37 7 30118277 30118277 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 7 30118277 30118277 G C SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known missense c.1434 p.Q478H 1.000 superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 tier1 - - 91 0 0.00 138 33 19.19 PLEKHN1 0 genome.wustl.edu 37 1 908636 908636 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 908636 908636 G A SNP PLEKHN1 ENST00000379409 human ensembl 74_37 +1 known missense c.1379 p.R460Q 0.000 NULL smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 tier1 - - 52 0 0.00 19 6 24.00 PLSCR2 0 genome.wustl.edu 37 3 146213729 146213729 + RNA SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 146213729 146213729 C G SNP PLSCR2 ENST00000474418 human ensembl 74_37 -1 putative rna NULL NULL 0.011 - - - no_errors PLSCR2 HGNC ENSG00000163746 tier1 - - 41 0 0.00 21 6 22.22 PMS2 0 genome.wustl.edu 37 7 6026532 6026532 + Missense_Mutation SNP T T A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 7 6026532 6026532 T A SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.1864 p.M622L 0.165 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 tier1 - - 66 0 0.00 35 54 60.67 POLB 0 genome.wustl.edu 37 8 42196087 42196087 + RNA SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 8 42196087 42196087 G C SNP POLB ENST00000530566 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors POLB HGNC ENSG00000070501 tier1 - - 114 0 0.00 43 31 41.89 POTEB2 0 genome.wustl.edu 37 15 21071350 21071350 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 15 21071350 21071350 G A SNP POTEB2 ENST00000454856 human ensembl 74_37 -1 known silent c.261 p.D87 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEB2 HGNC ENSG00000230031 tier1 - - 82 0 0.00 64 10 13.33 PPOX 0 genome.wustl.edu 37 1 161140351 161140352 + RNA INS - - TCCT TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 161140351 161140352 - TCCT INS PPOX ENST00000466452 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors PPOX HGNC ENSG00000143224 tier1 80 0 0.00 36 20 35.71 PRB4 0 genome.wustl.edu 37 12 11461530 11461530 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 12 11461530 11461530 G T SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.387 p.N129K 0.000 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 tier1 - - 109 0 0.00 144 23 13.77 PSG2 0 genome.wustl.edu 37 19 43579505 43579505 + Splice_Site SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 43579505 43579505 C A SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known splice_site c.709+1 e3+1 0.048 - - - no_errors PSG2 HGNC ENSG00000242221 tier1 - - 231 0 0.00 184 44 19.30 PSMC4 0 genome.wustl.edu 37 19 40487135 40487135 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 40487135 40487135 G T SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.1180 p.V394F 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 tier1 - - 36 0 0.00 32 4 11.11 PSMD11 0 genome.wustl.edu 37 17 30807535 30807535 + Silent SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 30807535 30807535 G C SNP PSMD11 ENST00000261712 human ensembl 74_37 +1 known silent c.1155 p.L385 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD11 HGNC ENSG00000108671 tier1 - - 49 0 0.00 26 7 21.21 PTEN 0 genome.wustl.edu 37 10 89712008 89712008 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 10 89712008 89712008 G C SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.626 p.G209A 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 19 0 0.00 12 4 25.00 PTGER2 0 genome.wustl.edu 37 14 52782053 52782053 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 52782053 52782053 C G SNP PTGER2 ENST00000245457 human ensembl 74_37 +1 known missense c.787 p.L263V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 tier1 - - 32 0 0.00 25 8 24.24 PTPLB 0 genome.wustl.edu 37 3 123301073 123301073 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 123301073 123301073 C T SNP PTPLB ENST00000383657 human ensembl 74_37 -1 known missense c.259 p.G87R 1.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA - no_errors PTPLB HGNC ENSG00000206527 tier1 - - 19 0 0.00 15 6 28.57 PTPRO 0 genome.wustl.edu 37 12 15739974 15739974 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 12 15739974 15739974 C T SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known silent c.3399 p.I1133 1.000 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,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 tier1 - - 44 0 0.00 25 7 21.88 PTPRT 0 genome.wustl.edu 37 20 41419957 41419957 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 20 41419957 41419957 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.364 p.V122I 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 39 0 0.00 38 4 9.52 PYGO2 0 genome.wustl.edu 37 1 154932041 154932041 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 154932041 154932041 G C SNP PYGO2 ENST00000368457 human ensembl 74_37 -1 known missense c.435 p.F145L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 22 0 0.00 13 2 13.33 RABIF 0 genome.wustl.edu 37 1 202858168 202858168 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 202858168 202858168 G A SNP RABIF ENST00000367262 human ensembl 74_37 -1 known missense c.59 p.A20V 1.000 pfam_Mss4,superfamily_Mss4-like pfam_Mss4,superfamily_Mss4-like - no_errors RABIF HGNC ENSG00000183155 tier1 - - 21 0 0.00 13 8 38.10 RBM4 0 genome.wustl.edu 37 11 66407231 66407231 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 66407231 66407231 G C SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.49 p.E17Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 tier1 - - 133 0 0.00 61 42 40.78 RFFL 0 genome.wustl.edu 37 17 33348699 33348699 + Silent SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 33348699 33348699 T C SNP RFFL ENST00000315249 human ensembl 74_37 -1 known silent c.282 p.T94 1.000 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 tier1 - - 44 0 0.00 8 5 38.46 RFPL4AL1 0 genome.wustl.edu 37 19 56283325 56283325 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 56283325 56283325 G T SNP RFPL4AL1 ENST00000341750 human ensembl 74_37 +1 novel missense c.155 p.C52F 0.037 pfam_RDM_domain_RFPL,pfscan_Znf_RING pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4AL1 HGNC ENSG00000229292 tier1 - - 20 0 0.00 7 7 50.00 RFPL4AL1 0 genome.wustl.edu 37 19 56283981 56283981 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 56283981 56283981 C G SNP RFPL4AL1 ENST00000341750 human ensembl 74_37 +1 novel missense c.300 p.F100L 0.343 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL4AL1 HGNC ENSG00000229292 tier1 - - 28 0 0.00 13 23 63.89 RFX3 0 genome.wustl.edu 37 9 3395586 3395586 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 3395586 3395586 C G SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 tier1 - - 47 0 0.00 31 12 27.91 RNF17 0 genome.wustl.edu 37 13 25418011 25418011 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 13 25418011 25418011 G T SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.2733 p.Q911H 0.827 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 59 0 0.00 53 4 7.02 RNF6 0 genome.wustl.edu 37 13 26788056 26788056 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 13 26788056 26788056 G C SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.1963 p.H655D 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 tier1 - - 33 0 0.00 9 13 59.09 RNPC3 0 genome.wustl.edu 37 1 104087666 104087666 + Missense_Mutation SNP A A C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 104087666 104087666 A C SNP RNPC3 ENST00000423855 human ensembl 74_37 +1 known missense c.1149 p.E383D 0.991 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 - - 54 0 0.00 34 8 19.05 ROBO2 0 genome.wustl.edu 37 3 77681778 77681778 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 77681778 77681778 G A SNP ROBO2 ENST00000332191 human ensembl 74_37 +1 novel missense c.3914 p.R1305K 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 50 0 0.00 25 7 21.88 RPS6KA5 0 genome.wustl.edu 37 14 91341668 91341668 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 91341668 91341668 G C SNP RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known missense c.1873 p.H625D 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 tier1 - - 32 0 0.00 23 12 34.29 RTL1 0 genome.wustl.edu 37 14 101347784 101347784 + Silent SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 101347784 101347784 C A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known silent c.3342 p.R1114 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 55 0 0.00 38 11 22.45 RYR2 0 genome.wustl.edu 37 1 237863703 237863703 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 237863703 237863703 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.9297 p.L3099 0.990 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 54 0 0.00 53 14 20.90 SACS 0 genome.wustl.edu 37 13 23914586 23914586 + Missense_Mutation SNP T T A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 13 23914586 23914586 T A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.3429 p.Q1143H 0.975 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 27 0 0.00 27 13 32.50 SATB2 0 genome.wustl.edu 37 2 200246514 200246514 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 200246514 200246514 G C SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.376 p.L126V 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 40 0 0.00 24 5 17.24 SDHAF2 0 genome.wustl.edu 37 11 61205246 61205246 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 61205246 61205246 C T SNP SDHAF2 ENST00000301761 human ensembl 74_37 +1 known silent c.186 p.S62 0.996 superfamily_SDH pfam_SDH,superfamily_SDH - no_errors SDHAF2 HGNC ENSG00000167985 12 0 0.00 10 7 41.18 SEMA4B 0 genome.wustl.edu 37 15 90768989 90768989 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 15 90768989 90768989 G T SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.1618 p.D540Y 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 tier1 - - 85 0 0.00 62 31 33.33 SERINC3 0 genome.wustl.edu 37 20 43135470 43135470 + Nonsense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 20 43135470 43135470 G A SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known nonsense c.781 p.Q261* 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 tier1 - - 33 0 0.00 13 8 38.10 SERTAD3 0 genome.wustl.edu 37 19 40947559 40947559 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 40947559 40947559 C T SNP SERTAD3 ENST00000322354 human ensembl 74_37 -1 known silent c.429 p.G143 0.365 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC ENSG00000167565 tier1 - - 64 0 0.00 28 17 37.78 SETD7 0 genome.wustl.edu 37 4 140454373 140454373 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 4 140454373 140454373 G A SNP SETD7 ENST00000274031 human ensembl 74_37 -1 known silent c.318 p.F106 1.000 pfam_MORN,pirsf_Hist-Lys_N-MeTrfase_SET pfam_MORN,pfam_SET_dom,smart_SET_dom,pirsf_Hist-Lys_N-MeTrfase_SET,pfscan_SET_dom - no_errors SETD7 HGNC ENSG00000145391 tier1 - - 124 0 0.00 58 47 44.76 SGIP1 0 genome.wustl.edu 37 1 67147594 67147594 + Missense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 67147594 67147594 C A SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.869 p.P290Q 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 50 0 0.00 25 11 30.56 SIGLEC6 0 genome.wustl.edu 37 19 52032987 52032987 + Missense_Mutation SNP A A G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 52032987 52032987 A G SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known missense c.1003 p.F335L 0.044 pfam_Ig_I-set,smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 tier1 - - 73 0 0.00 28 17 37.78 SLC12A7 0 genome.wustl.edu 37 5 1079523 1079523 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 5 1079523 1079523 C T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1386 p.T462 0.949 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 38 0 0.00 64 8 11.11 SLC35E2B 0 genome.wustl.edu 37 1 1601102 1601102 + Splice_Site DEL C C - TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 1601102 1601102 C - DEL SLC35E2B ENST00000234800 human ensembl 74_37 -1 known splice_site_del c.834+1 e6+1 1.000 - - - no_errors SLC35E2B HGNC ENSG00000189339 tier1 54 0 0.00 33 9 21.43 SNX13 0 genome.wustl.edu 37 7 17931220 17931220 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 7 17931220 17931220 C G SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.267 p.K89N 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 12 0 0.00 13 3 18.75 SPATA31A6 0 genome.wustl.edu 37 9 43628235 43628235 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 43628235 43628235 G A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.452 p.P151L 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 rs199884594 - 18 0 0.00 1 2 66.67 SRRM1 0 genome.wustl.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 24993374 24993374 C A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.1733 p.P578H 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 53 0 0.00 55 3 5.17 SRRM1 0 genome.wustl.edu 37 1 24993386 24993386 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 24993386 24993386 G T SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.1745 p.R582L 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 51 0 0.00 46 3 6.12 SSPN 0 genome.wustl.edu 37 12 26383707 26383707 + Frame_Shift_Del DEL G G - TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 12 26383707 26383707 G - DEL SSPN ENST00000242729 human ensembl 74_37 +1 known frame_shift_del c.430 p.A144fs 0.998 pfam_CD20-like pfam_CD20-like - no_errors SSPN HGNC ENSG00000123096 tier1 36 0 0.00 41 10 19.61 STK17B 0 genome.wustl.edu 37 2 197010768 197010768 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 197010768 197010768 C T SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.347 p.G116E 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_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 - no_errors STK17B HGNC ENSG00000081320 tier1 - - 29 0 0.00 14 7 33.33 STX17 0 genome.wustl.edu 37 9 102713526 102713526 + Missense_Mutation SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 9 102713526 102713526 C G SNP STX17 ENST00000259400 human ensembl 74_37 +1 known missense c.374 p.T125S 0.052 superfamily_t-SNARE pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX17 HGNC ENSG00000136874 tier1 - - 63 0 0.00 39 13 24.53 SYNE2 0 genome.wustl.edu 37 14 64588838 64588838 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 64588838 64588838 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.13267 p.E4423K 0.854 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 39 0 0.00 25 11 30.56 TAGAP 0 genome.wustl.edu 37 6 159459233 159459233 + Missense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 159459233 159459233 C A SNP TAGAP ENST00000367066 human ensembl 74_37 -1 known missense c.811 p.D271Y 0.465 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC ENSG00000164691 31 0 0.00 21 2 8.70 TBC1D32 0 genome.wustl.edu 37 6 121481218 121481218 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 6 121481218 121481218 G A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2834 p.S945L 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 45 0 0.00 12 13 52.00 TIGD3 0 genome.wustl.edu 37 11 65124656 65124656 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 11 65124656 65124656 C T SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known silent c.1377 p.Y459 0.939 NULL pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 tier1 - - 57 0 0.00 32 8 20.00 TLL2 0 genome.wustl.edu 37 10 98136519 98136519 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 10 98136519 98136519 G T SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known missense c.2378 p.P793H 1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 tier1 - - 72 0 0.00 26 28 51.85 TMEM70 0 genome.wustl.edu 37 8 74891032 74891032 + Silent SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 8 74891032 74891032 G T SNP TMEM70 ENST00000312184 human ensembl 74_37 +1 known silent c.252 p.T84 0.406 NULL pfam_DUF1301_TMEM70 - no_errors TMEM70 HGNC ENSG00000175606 tier1 - - 74 0 0.00 51 4 7.27 TNRC6B 0 genome.wustl.edu 37 22 40661412 40661412 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 22 40661412 40661412 G A SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.1178 p.G393E 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 tier1 - - 28 0 0.00 18 4 18.18 TOM1 0 genome.wustl.edu 37 22 35734728 35734728 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 22 35734728 35734728 G T SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known missense c.1171 p.A391S 1.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 tier1 - - 113 0 0.00 74 19 20.43 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 30 0 0.00 11 15 57.69 TP53TG3D 0 genome.wustl.edu 37 16 32264978 32264978 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 32264978 32264978 C T SNP TP53TG3D ENST00000354614 human ensembl 74_37 +1 known missense c.304 p.P102S 0.034 NULL NULL - no_errors TP53TG3D HGNC ENSG00000205456 tier1 - - 185 0 0.00 143 32 18.29 TPTE 0 genome.wustl.edu 37 21 10942941 10942941 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 21 10942941 10942941 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.646 p.E216K 1.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 176 0 0.00 121 13 9.70 TRAF3 0 genome.wustl.edu 37 14 103371584 103371584 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 14 103371584 103371584 G C SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known missense c.1170 p.Q390H 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 tier1 - - 65 0 0.00 37 27 42.19 TRAK1 0 genome.wustl.edu 37 3 42265157 42265157 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 3 42265157 42265157 G A SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.2616 p.M872I 1.000 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 tier1 - - 43 0 0.00 12 12 50.00 TSGA10 0 genome.wustl.edu 37 2 99634813 99634813 + Splice_Site SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 99634813 99634813 C T SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known splice_site c.1923-1 e15-1 1.000 - - - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 43 0 0.00 27 6 17.65 TTN 0 genome.wustl.edu 37 2 179486627 179486627 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 2 179486627 179486627 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.37318 p.E12440K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 65 0 0.00 45 25 35.71 UBQLN2 0 genome.wustl.edu 37 X 56590987 56590987 + Frame_Shift_Del DEL C C - TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d X 56590987 56590987 C - DEL UBQLN2 ENST00000338222 human ensembl 74_37 +1 known frame_shift_del c.681 p.P228fs 1.000 superfamily_ARM-type_fold,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 tier1 12 0 0.00 10 5 33.33 UBR4 0 genome.wustl.edu 37 1 19493660 19493660 + Missense_Mutation SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 1 19493660 19493660 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.3965 p.S1322N 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 54 0 0.00 22 14 38.89 URGCP 0 genome.wustl.edu 37 7 43917445 43917445 + Silent SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 7 43917445 43917445 C T SNP URGCP ENST00000453200 human ensembl 74_37 -1 known silent c.1617 p.Q539 1.000 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 tier1 - - 55 0 0.00 35 33 48.53 WDR90 0 genome.wustl.edu 37 16 701947 701947 + Missense_Mutation SNP G G C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 16 701947 701947 G C SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.961 p.E321Q 0.000 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 24 0 0.00 12 2 14.29 WHSC1L1 0 genome.wustl.edu 37 8 38173482 38173482 + Nonsense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 8 38173482 38173482 G T SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known nonsense c.1934 p.S645* 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 18 0 0.00 19 3 13.64 ZFX 0 genome.wustl.edu 37 X 24190949 24190949 + RNA SNP C C T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d X 24190949 24190949 C T SNP ZFX ENST00000480195 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors ZFX HGNC ENSG00000005889 tier1 - - 30 0 0.00 16 9 36.00 ZNF208 0 genome.wustl.edu 37 19 22157331 22157331 + Nonsense_Mutation SNP C C A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 22157331 22157331 C A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel nonsense c.505 p.G169* 0.361 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 ZNF208 HGNC ENSG00000160321 tier1 - - 158 0 0.00 110 27 19.71 ZNF350 0 genome.wustl.edu 37 19 52468501 52468501 + Missense_Mutation SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 52468501 52468501 T C SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known missense c.1205 p.Y402C 0.046 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 ZNF350 HGNC ENSG00000256683 tier1 rs150778438 - 74 0 0.00 31 19 38.00 ZNF428 0 genome.wustl.edu 37 19 44112223 44112223 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 44112223 44112223 G A SNP ZNF428 ENST00000300811 human ensembl 74_37 -1 known missense c.113 p.S38L 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF428 HGNC ENSG00000131116 tier1 - - 36 0 0.00 13 7 35.00 ZNF429 0 genome.wustl.edu 37 19 21712490 21712490 + Missense_Mutation SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 21712490 21712490 G A SNP ZNF429 ENST00000597078 human ensembl 74_37 +1 putative missense c.34 p.E12K 0.940 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 tier1 - - 97 0 0.00 65 34 34.34 ZNF443 0 genome.wustl.edu 37 19 12541042 12541042 + Silent SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 12541042 12541042 T C SNP ZNF443 ENST00000301547 human ensembl 74_37 -1 known silent c.1944 p.P648 0.000 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 ZNF443 HGNC ENSG00000180855 133 0 0.00 82 10 10.87 ZNF512B 0 genome.wustl.edu 37 20 62592679 62592679 + Missense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 20 62592679 62592679 G T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.2410 p.L804M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 tier1 - - 55 0 0.00 33 12 26.67 ZNF582 0 genome.wustl.edu 37 19 56895658 56895658 + Missense_Mutation SNP A A T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 56895658 56895658 A T SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.1128 p.F376L 0.004 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 - - 35 0 0.00 19 16 45.71 ZNF737 0 genome.wustl.edu 37 19 20736632 20736632 + Nonsense_Mutation SNP G G T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 20736632 20736632 G T SNP ZNF737 ENST00000597940 human ensembl 74_37 -1 known nonsense c.111 p.C37* 0.006 NULL NULL - no_errors ZNF737 HGNC ENSG00000237440 tier1 - - 70 0 0.00 52 4 7.14 ZNF772 0 genome.wustl.edu 37 19 57985077 57985077 + Silent SNP A A T TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 57985077 57985077 A T SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known silent c.1035 p.T345 0.998 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 ZNF772 HGNC ENSG00000197128 tier1 - - 58 0 0.00 41 28 40.58 ZNF788 0 genome.wustl.edu 37 19 12203239 12203239 + RNA SNP C C G TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 19 12203239 12203239 C G SNP ZNF788 ENST00000397755 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors ZNF788 HGNC ENSG00000214189 tier1 - - 74 0 0.00 43 16 27.12 ZSCAN25 0 genome.wustl.edu 37 7 99226869 99226869 + Silent SNP G G A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 7 99226869 99226869 G A SNP ZSCAN25 ENST00000334715 human ensembl 74_37 +1 known silent c.861 p.A287 0.230 NULL 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 ZSCAN25 HGNC ENSG00000197037 tier1 - - 45 0 0.00 17 9 34.62 ZZEF1 0 genome.wustl.edu 37 17 3981250 3981250 + Silent SNP T T C TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ecf994e6-048e-4018-9722-ea4933b798d4 59ed9bfb-00bb-41ef-ad61-c64a5dacb24d 17 3981250 3981250 T C SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known silent c.2916 p.L972 0.871 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 19 0 0.00 17 7 29.17