Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AARSD1 0 genome.wustl.edu 37 17 41103846 41103846 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 41103846 41103846 T G SNP AARSD1 ENST00000409399 human ensembl 69_37n -1 known silent c.1596 p.P532 0.005 NULL pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core - no_errors AARSD1 HGNC ENSG00000108825 72 0 0.00 37 12 23.53 - - - ABCC8 0 genome.wustl.edu 37 11 17449890 17449890 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 17449890 17449890 T G SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known silent c.1986 p.P662 0.003 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 66 0 0.00 27 4 12.90 - - - ADAMTS15 0 genome.wustl.edu 37 11 130340998 130340998 + Splice_Site SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 130340998 130340998 T G SNP ADAMTS15 ENST00000299164 human ensembl 69_37n +1 known splice_site c.1902+2 e6+2 1.000 - - - no_errors ADAMTS15 HGNC ENSG00000166106 53 0 0.00 37 7 15.56 - - - AGRN 0 genome.wustl.edu 37 1 957654 957654 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 1 957654 957654 T G SNP AGRN ENST00000379370 human ensembl 69_37n +1 known missense c.275 p.V92G 1.000 pfam_Agrin_NtA,superfamily_TIMP-like_OB-fold,pfscan_Agrin_NtA pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC ENSG00000188157 117 0 0.00 54 14 20.29 - - - AHNAK2 0 genome.wustl.edu 37 14 105421045 105421045 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 14 105421045 105421045 A C SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.743 p.V248G 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 72 0 0.00 47 15 23.81 - - - ALDH3B2 0 genome.wustl.edu 37 11 67433785 67433785 + Splice_Site SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 67433785 67433785 A C SNP ALDH3B2 ENST00000349015 human ensembl 69_37n -1 known splice_site c.237+2 e3+2 1.000 - - - no_errors ALDH3B2 HGNC ENSG00000132746 52 0 0.00 33 5 12.82 - - - ANGPTL6 0 genome.wustl.edu 37 19 10205446 10205446 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 10205446 10205446 T G SNP ANGPTL6 ENST00000253109 human ensembl 69_37n -1 known missense c.751 p.T251P 0.992 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL6 HGNC ENSG00000130812 124 0 0.00 72 14 16.09 - - - ANK1 0 genome.wustl.edu 37 8 41566342 41566342 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 8 41566342 41566342 A C SNP ANK1 ENST00000396942 human ensembl 69_37n -1 known missense c.1952 p.V651G 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 89 0 0.00 25 5 16.13 - - - AP5B1 0 genome.wustl.edu 37 11 65545693 65545693 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 65545693 65545693 T G SNP AP5B1 ENST00000532090 human ensembl 69_37n -1 novel silent c.2271 p.P757 0.707 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 72 0 0.00 40 8 16.67 - - - ASAP2 0 genome.wustl.edu 37 2 9517076 9517076 + Missense_Mutation SNP G G A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 2 9517076 9517076 G A SNP ASAP2 ENST00000281419 human ensembl 69_37n +1 known missense c.1786 p.V596M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 131 0 0.00 146 25 14.62 - - - ATG13 0 genome.wustl.edu 37 11 46687026 46687026 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 46687026 46687026 A C SNP ATG13 ENST00000312040 human ensembl 69_37n +1 known missense c.994 p.T332P 1.000 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 156 0 0.00 51 17 24.64 - - - BAK1 0 genome.wustl.edu 37 6 33541881 33541881 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 33541881 33541881 A C SNP BAK1 ENST00000360661 human ensembl 69_37n -1 known missense c.461 p.V154G 0.970 pfam_Bcl2_BH,smart_Bcl2_BH,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis pfam_Bcl2_BH,smart_Bcl2_BH,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis - no_errors BAK1 HGNC ENSG00000030110 67 0 0.00 30 5 13.89 - - - BCR 0 genome.wustl.edu 37 22 23656229 23656229 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 22 23656229 23656229 A C SNP BCR ENST00000305877 human ensembl 69_37n +1 known missense c.3532 p.T1178P 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 168 1 0.59 47 6 11.11 - - - BLK 0 genome.wustl.edu 37 8 11412359 11412359 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 8 11412359 11412359 A C SNP BLK ENST00000259089 human ensembl 69_37n +1 known missense c.580 p.T194P 0.937 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 35 0 0.00 25 6 19.35 - - - C17orf101 0 genome.wustl.edu 37 17 80356194 80356194 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 80356194 80356194 A C SNP C17orf101 ENST00000329197 human ensembl 69_37n -1 known missense c.701 p.V234G 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors C17orf101 HGNC ENSG00000181396 83 0 0.00 40 11 21.57 - - - C17orf28 0 genome.wustl.edu 37 17 72948400 72948400 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 72948400 72948400 A C SNP C17orf28 ENST00000425042 human ensembl 69_37n -1 known missense c.2108 p.V703G 1.000 NULL pfam_Dymeclin - no_errors C17orf28 HGNC ENSG00000167861 79 0 0.00 36 8 18.18 - - - CASZ1 0 genome.wustl.edu 37 1 10714070 10714070 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 1 10714070 10714070 T G SNP CASZ1 ENST00000377022 human ensembl 69_37n -1 known missense c.2044 p.T682P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 174 0 0.00 39 14 26.42 - - - CBLC 0 genome.wustl.edu 37 19 45285673 45285673 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 45285673 45285673 A C SNP CBLC ENST00000270279 human ensembl 69_37n +1 known missense c.704 p.H235P 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 114 1 0.85 35 9 20.00 - - - CDC42BPB 0 genome.wustl.edu 37 14 103404703 103404703 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 14 103404703 103404703 T G SNP CDC42BPB ENST00000361246 human ensembl 69_37n -1 known missense c.4873 p.T1625P 0.000 NULL pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPB HGNC ENSG00000198752 155 0 0.00 53 12 18.46 - - - CDH1 0 genome.wustl.edu 37 16 68867233 68867234 + Frame_Shift_Ins INS - - TGAT TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 16 68867233 68867234 - TGAT INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.2480_2481 p.S829fs 1.000:0.967 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 129 0 0.00 52 20 27.78 - - - CDH16 0 genome.wustl.edu 37 16 66944217 66944217 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 16 66944217 66944217 T G SNP CDH16 ENST00000299752 human ensembl 69_37n -1 known missense c.2113 p.T705P 0.979 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 285 2 0.69 71 15 17.05 - - - CDK20 0 genome.wustl.edu 37 9 90588982 90588982 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 9 90588982 90588982 A C SNP CDK20 ENST00000336654 human ensembl 69_37n -1 known missense c.83 p.V28G 0.007 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK20 HGNC ENSG00000156345 63 0 0.00 28 8 22.22 - - - CHRNA2 0 genome.wustl.edu 37 8 27319270 27319270 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 8 27319270 27319270 A C SNP CHRNA2 ENST00000407991 human ensembl 69_37n -1 known missense c.1466 p.V489G 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 188 1 0.53 70 13 15.66 - - - COL4A1 0 genome.wustl.edu 37 13 110833735 110833735 + Silent SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 13 110833735 110833735 A C SNP COL4A1 ENST00000375820 human ensembl 69_37n -1 known silent c.2097 p.G699 0.769 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 45 0 0.00 35 9 20.45 - - - CPSF1 0 genome.wustl.edu 37 8 145621651 145621651 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 8 145621651 145621651 T G SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known missense c.2891 p.H964P 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 37 0 0.00 17 7 29.17 - - - CPSF1 0 genome.wustl.edu 37 8 145623023 145623023 + Silent SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 8 145623023 145623023 A C SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known silent c.2145 p.G715 0.243 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 29 0 0.00 13 6 31.58 - - - CSPG4 0 genome.wustl.edu 37 15 75982208 75982208 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 15 75982208 75982208 T G SNP CSPG4 ENST00000308508 human ensembl 69_37n -1 known missense c.1198 p.T400P 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 27 0 0.00 11 6 35.29 - - - DEAF1 0 genome.wustl.edu 37 11 688337 688337 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 688337 688337 T G SNP DEAF1 ENST00000382409 human ensembl 69_37n -1 known missense c.511 p.T171P 0.999 NULL pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 75 0 0.00 47 13 21.67 - - - DEDD 0 genome.wustl.edu 37 1 161094221 161094221 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 1 161094221 161094221 A C SNP DEDD ENST00000368005 human ensembl 69_37n -1 known missense c.32 p.V11G 1.000 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 142 1 0.69 48 11 18.64 - - - DMRTC2 0 genome.wustl.edu 37 19 42351833 42351833 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 42351833 42351833 T G SNP DMRTC2 ENST00000269945 human ensembl 69_37n +1 known missense c.254 p.V85G 1.000 smart_DM_DNA-bd,pfscan_DM_DNA-bd pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTC2 HGNC ENSG00000142025 57 0 0.00 28 8 22.22 - - - DNAJC4 0 genome.wustl.edu 37 11 63999906 63999906 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 63999906 63999906 A C SNP DNAJC4 ENST00000321685 human ensembl 69_37n +1 known missense c.185 p.H62P 0.998 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC4 HGNC ENSG00000110011 48 0 0.00 32 5 13.51 - - - DRGX 0 genome.wustl.edu 37 10 50574265 50574265 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 10 50574265 50574265 T G SNP DRGX ENST00000434016 human ensembl 69_37n -1 known missense c.703 p.T235P 0.012 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors DRGX HGNC ENSG00000165606 147 1 0.68 38 8 17.39 - - - EBF3 0 genome.wustl.edu 37 10 131761677 131761677 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 10 131761677 131761677 A C SNP EBF3 ENST00000355311 human ensembl 69_37n -1 known missense c.245 p.V82G 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF3 HGNC ENSG00000108001 102 0 0.00 60 13 17.81 - - - ENSG00000187686 0 genome.wustl.edu 37 11 124983938 124983938 + RNA SNP G G A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 124983938 124983938 G A SNP ENSG00000187686 ENST00000534728 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RP11-687M24.3 Clone_based_vega_gene ENSG00000187686 9 0 0.00 1 4 80.00 - - - ENSG00000226025 0 genome.wustl.edu 37 19 40172131 40172131 + RNA SNP C C A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 40172131 40172131 C A SNP ENSG00000226025 ENST00000412609 human ensembl 69_37n +1 known rna NULL NULL 0.008 - - - no_errors AC093063.1 Clone_based_vega_gene ENSG00000226025 444 0 0.00 102 64 38.55 - - - ENSG00000257198 0 genome.wustl.edu 37 9 34835451 34835451 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 9 34835451 34835451 T G SNP ENSG00000257198 ENST00000455647 human ensembl 69_37n -1 known missense c.38 p.H13P 0.017 NULL NULL - no_errors AL589645.1 Clone_based_ensembl_gene ENSG00000257198 112 0 0.00 50 15 23.08 - - - ERBB2 0 genome.wustl.edu 37 17 37879658 37879658 + Missense_Mutation SNP G G A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 37879658 37879658 G A SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2033 p.R678Q 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 246 0 0.00 79 25 23.81 - - - ERBB2 0 genome.wustl.edu 37 17 37880219 37880219 + Nonsense_Mutation SNP T T A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 37880219 37880219 T A SNP ERBB2 ENST00000580074 human ensembl 69_37n +1 novel nonsense c.369 p.C123* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERBB2 HGNC ENSG00000141736 195 0 0.00 115 45 28.12 - - - ERBB2 0 genome.wustl.edu 37 17 37880220 37880220 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 37880220 37880220 T G SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.2264 p.L755W 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 194 0 0.00 115 46 28.57 - - - FAM107B 0 genome.wustl.edu 37 10 14816537 14816537 + Silent SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 10 14816537 14816537 C T SNP FAM107B ENST00000181796 human ensembl 69_37n -1 known silent c.126 p.Q42 0.950 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 118 0 0.00 36 16 30.77 - - - FAM90A24P 0 genome.wustl.edu 37 8 7878200 7878200 + RNA SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 8 7878200 7878200 A C SNP FAM90A24P ENST00000521100 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors FAM90A24P HGNC ENSG00000215354 183 1 0.53 59 16 20.78 - - - FBF1 0 genome.wustl.edu 37 17 73924155 73924155 + Splice_Site SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 73924155 73924155 A C SNP FBF1 ENST00000389570 human ensembl 69_37n -1 known splice_site c.355+2 e6+2 0.000 - - - no_errors FBF1 HGNC ENSG00000188878 161 1 0.62 111 39 26.00 - - - FDX1L 0 genome.wustl.edu 37 19 10426603 10426603 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 10426603 10426603 A C SNP FDX1L ENST00000393708 human ensembl 69_37n -1 known missense c.70 p.W24G 0.018 NULL pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1L Clone_based_vega_gene ENSG00000267673 26 0 0.00 29 6 16.67 - - - FIZ1 0 genome.wustl.edu 37 19 56109047 56109047 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 56109047 56109047 T G SNP FIZ1 ENST00000221665 human ensembl 69_37n -1 known missense c.185 p.H62P 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC ENSG00000179943 57 0 0.00 25 4 13.79 - - - FLII 0 genome.wustl.edu 37 17 18155869 18155869 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 18155869 18155869 A C SNP FLII ENST00000327031 human ensembl 69_37n -1 known missense c.1015 p.C339G 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC ENSG00000177731 58 0 0.00 37 5 11.90 - - - FLNB 0 genome.wustl.edu 37 3 58062922 58062922 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 58062922 58062922 T G SNP FLNB ENST00000295956 human ensembl 69_37n +1 known missense c.442 p.W148G 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 103 0 0.00 72 18 20.00 - - - FLOT1 0 genome.wustl.edu 37 6 30698753 30698753 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 30698753 30698753 A C SNP FLOT1 ENST00000376389 human ensembl 69_37n -1 known missense c.848 p.V283G 0.981 NULL pfam_Band_7,smart_Band_7 - no_errors FLOT1 HGNC ENSG00000137312 54 0 0.00 24 5 17.24 - - - FNDC1 0 genome.wustl.edu 37 6 159650900 159650900 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 159650900 159650900 A C SNP FNDC1 ENST00000297267 human ensembl 69_37n +1 known missense c.1234 p.T412P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 143 1 0.69 66 10 13.16 - - - FTSJD2 0 genome.wustl.edu 37 6 37418099 37418099 + Missense_Mutation SNP G G A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 37418099 37418099 G A SNP FTSJD2 ENST00000373451 human ensembl 69_37n +1 known missense c.517 p.D173N 0.998 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC ENSG00000137200 298 0 0.00 122 50 29.07 - - - GAN 0 genome.wustl.edu 37 16 81397481 81397481 + Missense_Mutation SNP C C A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 16 81397481 81397481 C A SNP GAN ENST00000248272 human ensembl 69_37n +1 known missense c.1169 p.S390Y 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000127688 397 0 0.00 189 25 11.68 - - - GEMIN5 0 genome.wustl.edu 37 5 154317530 154317530 + Missense_Mutation SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 5 154317530 154317530 C T SNP GEMIN5 ENST00000285873 human ensembl 69_37n -1 known missense c.164 p.R55Q 1.000 smart_WD40_repeat pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 32 0 0.00 12 10 45.45 - - - GNAZ 0 genome.wustl.edu 37 22 23465518 23465518 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 22 23465518 23465518 A C SNP GNAZ ENST00000248996 human ensembl 69_37n +1 known missense c.968 p.H323P 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 217 1 0.46 49 16 24.62 - - - GNL1 0 genome.wustl.edu 37 6 30514036 30514036 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 30514036 30514036 A C SNP GNL1 ENST00000376621 human ensembl 69_37n -1 known missense c.1637 p.V546G 1.000 NULL pfam_GTP_binding_domain - no_errors GNL1 HGNC ENSG00000204590 128 1 0.77 68 15 18.07 - - - GOLGA6L2 0 genome.wustl.edu 37 15 23685300 23685301 + Frame_Shift_Del DEL TT TT - TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 15 23685300 23685301 TT - DEL GOLGA6L2 ENST00000567107 human ensembl 69_37n -1 putative frame_shift_del c.2322_2321 p.E774fs 0.104:0.092 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 48 0 0.00 12 6 31.58 - - - GTDC2 0 genome.wustl.edu 37 3 43121374 43121374 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 43121374 43121374 A C SNP GTDC2 ENST00000344697 human ensembl 69_37n -1 known missense c.1550 p.V517G 1.000 superfamily_Fibronectin_type3 pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors GTDC2 HGNC ENSG00000144647 203 0 0.00 40 11 21.57 - - - HPN 0 genome.wustl.edu 37 19 35540195 35540195 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 35540195 35540195 T G SNP HPN ENST00000262626 human ensembl 69_37n +1 known silent c.18 p.G6 1.000 NULL pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 90 0 0.00 39 9 18.37 - - - HS6ST2 0 genome.wustl.edu 37 X 131762942 131762942 + Missense_Mutation SNP T T C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 X 131762942 131762942 T C SNP HS6ST2 ENST00000521489 human ensembl 69_37n -1 known missense c.1247 p.K416R 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST2 HGNC ENSG00000171004 162 0 0.00 62 23 27.06 - - - HS6ST3 0 genome.wustl.edu 37 13 97485222 97485222 + Missense_Mutation SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 13 97485222 97485222 C T SNP HS6ST3 ENST00000376705 human ensembl 69_37n +1 known missense c.1186 p.R396C 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST3 HGNC ENSG00000185352 120 0 0.00 60 18 23.08 - - - IQSEC3 0 genome.wustl.edu 37 12 247490 247490 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 12 247490 247490 A C SNP IQSEC3 ENST00000326261 human ensembl 69_37n +1 known missense c.961 p.T321P 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ENSG00000120645 110 0 0.00 39 7 15.22 - - - ITFG3 0 genome.wustl.edu 37 16 314064 314064 + Missense_Mutation SNP T T C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 16 314064 314064 T C SNP ITFG3 ENST00000301678 human ensembl 69_37n +1 known missense c.1238 p.L413P 0.076 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 62 0 0.00 23 6 20.69 - - - KCNT1 0 genome.wustl.edu 37 9 138676624 138676624 + Silent SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 9 138676624 138676624 C T SNP KCNT1 ENST00000298480 human ensembl 69_37n +1 known silent c.3045 p.G1015 0.961 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 43 0 0.00 12 5 29.41 - - - KHNYN 0 genome.wustl.edu 37 14 24901064 24901064 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 14 24901064 24901064 T G SNP KHNYN ENST00000251343 human ensembl 69_37n +1 known missense c.597 p.S199R 0.032 NULL pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 27 0 0.00 30 6 16.22 - - - KIAA0182 0 genome.wustl.edu 37 16 85667564 85667564 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 16 85667564 85667564 A C SNP KIAA0182 ENST00000253458 human ensembl 69_37n +1 known missense c.52 p.T18P 1.000 NULL pfam_DUF3736 - no_errors KIAA0182 HGNC ENSG00000131149 123 1 0.80 26 7 21.21 - - - KIF17 0 genome.wustl.edu 37 1 21013963 21013963 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 1 21013963 21013963 A C SNP KIF17 ENST00000247986 human ensembl 69_37n -1 known missense c.1856 p.V619G 0.882 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 56 0 0.00 23 7 23.33 - - - KLHL33 0 genome.wustl.edu 37 14 20898533 20898533 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 14 20898533 20898533 T G SNP KLHL33 ENST00000344581 human ensembl 69_37n -1 known missense c.302 p.H101P 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1 - no_errors KLHL33 HGNC ENSG00000185271 120 1 0.81 32 7 17.95 - - - KLK3 0 genome.wustl.edu 37 19 51358236 51358236 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 51358236 51358236 A C SNP KLK3 ENST00000326003 human ensembl 69_37n +1 known missense c.25 p.T9P 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK3 HGNC ENSG00000142515 107 0 0.00 58 14 19.18 - - - KRT83 0 genome.wustl.edu 37 12 52708539 52708539 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 12 52708539 52708539 A C SNP KRT83 ENST00000293670 human ensembl 69_37n -1 known missense c.1358 p.V453G 0.388 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 35 0 0.00 18 4 17.39 - - - LAMB2 0 genome.wustl.edu 37 3 49159431 49159431 + Silent SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 49159431 49159431 A C SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known silent c.4869 p.G1623 0.323 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 132 1 0.75 44 12 21.43 - - - LGALS9C 0 genome.wustl.edu 37 17 18390968 18390968 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 18390968 18390968 T G SNP LGALS9C ENST00000328114 human ensembl 69_37n +1 known missense c.341 p.V114G 0.999 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS9C HGNC ENSG00000171916 70 0 0.00 26 4 13.33 - - - LIMS2 0 genome.wustl.edu 37 2 128400528 128400528 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 2 128400528 128400528 T G SNP LIMS2 ENST00000324938 human ensembl 69_37n -1 known missense c.551 p.H184P 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS2 HGNC ENSG00000072163 128 1 0.77 42 8 16.00 - - - LRRC41 0 genome.wustl.edu 37 1 46751084 46751084 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 1 46751084 46751084 T G SNP LRRC41 ENST00000343304 human ensembl 69_37n -1 known missense c.1445 p.H482P 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 97 0 0.00 45 11 19.64 - - - MAPKAPK3 0 genome.wustl.edu 37 3 50683586 50683586 + Silent SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 50683586 50683586 A C SNP MAPKAPK3 ENST00000357955 human ensembl 69_37n +1 known silent c.720 p.P240 0.917 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 143 1 0.69 61 17 21.25 - - - MED23 0 genome.wustl.edu 37 6 131912472 131912472 + Nonsense_Mutation SNP G G A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 131912472 131912472 G A SNP MED23 ENST00000368058 human ensembl 69_37n -1 known nonsense c.3685 p.Q1229* 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 47 0 0.00 38 18 32.14 - - - METTL12 0 genome.wustl.edu 37 11 62434166 62434166 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 62434166 62434166 T G SNP METTL12 ENST00000532971 human ensembl 69_37n +1 known silent c.366 p.G122 0.652 pfam_Methyltransf_11 pfam_Methyltransf_11 - no_errors METTL12 HGNC ENSG00000214756 46 0 0.00 28 7 20.00 - - - MUC16 0 genome.wustl.edu 37 19 8976382 8976382 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 8976382 8976382 T G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.42446 p.H14149P 0.000 pfam_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 47 0 0.00 57 8 12.31 - - - MYBPC2 0 genome.wustl.edu 37 19 50939296 50939296 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 50939296 50939296 T G SNP MYBPC2 ENST00000357701 human ensembl 69_37n +1 known missense c.224 p.V75G 1.000 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC2 HGNC ENSG00000086967 125 0 0.00 51 11 17.46 - - - MYO1A 0 genome.wustl.edu 37 12 57422605 57422605 + Silent SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 12 57422605 57422605 A C SNP MYO1A ENST00000300119 human ensembl 69_37n -1 known silent c.3066 p.G1022 0.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC ENSG00000166866 252 2 0.78 96 26 21.14 - - - MYO9B 0 genome.wustl.edu 37 19 17311482 17311482 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 17311482 17311482 T G SNP MYO9B ENST00000397274 human ensembl 69_37n +1 known silent c.4407 p.G1469 0.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 204 2 0.96 87 20 18.52 - - - NAB2 0 genome.wustl.edu 37 12 57488479 57488479 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 12 57488479 57488479 T G SNP NAB2 ENST00000300131 human ensembl 69_37n +1 known missense c.1553 p.V518G 1.000 NULL pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 126 0 0.00 31 6 16.22 - - - NACAD 0 genome.wustl.edu 37 7 45124808 45124808 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 7 45124808 45124808 A C SNP NACAD ENST00000490531 human ensembl 69_37n -1 known missense c.971 p.V324G 0.996 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC ENSG00000136274 112 0 0.00 35 4 10.26 - - - NBEAL2 0 genome.wustl.edu 37 3 47045885 47045885 + Splice_Site SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 47045885 47045885 T G SNP NBEAL2 ENST00000450053 human ensembl 69_37n +1 known splice_site c.6198+2 e37+2 0.999 - - - no_errors NBEAL2 HGNC ENSG00000160796 68 0 0.00 33 7 17.50 - - - NDST2 0 genome.wustl.edu 37 10 75567934 75567934 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 10 75567934 75567934 T G SNP NDST2 ENST00000309979 human ensembl 69_37n -1 known silent c.213 p.P71 0.954 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST2 HGNC ENSG00000166507 73 0 0.00 33 4 10.81 - - - NHSL2 0 genome.wustl.edu 37 X 71359432 71359432 + Silent SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 X 71359432 71359432 A C SNP NHSL2 ENST00000540800 human ensembl 69_37n +1 known silent c.2034 p.S678 0.992 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 55 0 0.00 39 9 18.75 - - - NOP9 0 genome.wustl.edu 37 14 24772338 24772338 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 14 24772338 24772338 A C SNP NOP9 ENST00000267425 human ensembl 69_37n +1 known missense c.1202 p.H401P 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 125 0 0.00 63 14 18.18 - - - NTNG1 0 genome.wustl.edu 37 1 107691449 107691449 + Silent SNP G G A TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 1 107691449 107691449 G A SNP NTNG1 ENST00000370068 human ensembl 69_37n +1 known silent c.234 p.T78 0.702 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 102 0 0.00 64 25 28.09 - - - OR2B11 0 genome.wustl.edu 37 1 247614794 247614794 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 1 247614794 247614794 A C SNP OR2B11 ENST00000318749 human ensembl 69_37n -1 known missense c.491 p.V164G 0.007 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2B11 HGNC ENSG00000177535 91 0 0.00 34 8 19.05 - - - OR6B3 0 genome.wustl.edu 37 2 240984826 240984826 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 2 240984826 240984826 T G SNP OR6B3 ENST00000319423 human ensembl 69_37n -1 known missense c.664 p.T222P 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6B3 HGNC ENSG00000178586 168 1 0.59 49 18 26.47 - - - OTOF 0 genome.wustl.edu 37 2 26696085 26696085 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 2 26696085 26696085 T G SNP OTOF ENST00000426958 human ensembl 69_37n -1 putative missense c.214 p.T72P 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB superfamily_C2_Ca/lipid-bd_dom_CaLB - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region OTOF HGNC ENSG00000115155 101 0 0.00 30 5 13.51 - - - PALD1 0 genome.wustl.edu 37 10 72289740 72289740 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 10 72289740 72289740 T G SNP PALD1 ENST00000263563 human ensembl 69_37n +1 known silent c.384 p.G128 0.002 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 63 0 0.00 20 8 28.57 - - - PDE2A 0 genome.wustl.edu 37 11 72300262 72300262 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 72300262 72300262 A C SNP PDE2A ENST00000334456 human ensembl 69_37n -1 known missense c.896 p.V299G 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 99 1 0.98 51 7 12.07 - - - PDIA5 0 genome.wustl.edu 37 3 122842988 122842988 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 122842988 122842988 A C SNP PDIA5 ENST00000316218 human ensembl 69_37n +1 known missense c.685 p.T229P 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 108 0 0.00 64 8 11.11 - - - PHACTR2 0 genome.wustl.edu 37 6 143929461 143929461 + Splice_Site SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 143929461 143929461 T G SNP PHACTR2 ENST00000427704 human ensembl 69_37n +1 known splice_site c.13+2 e1+2 1.000 - - - no_errors PHACTR2 HGNC ENSG00000112419 180 1 0.55 47 11 18.64 - - - PIP5K1C 0 genome.wustl.edu 37 19 3633481 3633481 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 3633481 3633481 T G SNP PIP5K1C ENST00000335312 human ensembl 69_37n -1 known missense c.1958 p.H653P 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 49 0 0.00 19 5 20.83 - - - PLA2G12A 0 genome.wustl.edu 37 4 110650902 110650902 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 4 110650902 110650902 A C SNP PLA2G12A ENST00000243501 human ensembl 69_37n -1 known missense c.64 p.C22G 0.665 pfam_PLipase_A2_secretory_G12 pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2 - no_errors PLA2G12A HGNC ENSG00000123739 135 0 0.00 41 9 17.65 - - - PMM1 0 genome.wustl.edu 37 22 41980363 41980363 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 22 41980363 41980363 T G SNP PMM1 ENST00000216259 human ensembl 69_37n -1 known missense c.296 p.H99P 1.000 pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM1 HGNC ENSG00000100417 104 0 0.00 33 7 17.50 - - - POC1A 0 genome.wustl.edu 37 3 52183914 52183914 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 52183914 52183914 T G SNP POC1A ENST00000296484 human ensembl 69_37n -1 known missense c.193 p.T65P 0.992 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors POC1A HGNC ENSG00000164087 144 1 0.69 30 10 25.00 - - - PPOX 0 genome.wustl.edu 37 1 161136696 161136696 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 1 161136696 161136696 A C SNP PPOX ENST00000352210 human ensembl 69_37n +1 known missense c.59 p.H20P 1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 71 0 0.00 49 8 13.79 - - - PPP2R4 0 genome.wustl.edu 37 9 131891338 131891339 + Frame_Shift_Del DEL CT CT - TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 9 131891338 131891339 CT - DEL PPP2R4 ENST00000452489 human ensembl 69_37n +1 known frame_shift_del c.396_397 p.R134fs 1.000:1.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 120 0 0.00 61 8 11.59 - - - PPP2R4 0 genome.wustl.edu 37 9 131891344 131891347 + Frame_Shift_Del DEL GTTT GTTT - TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 GTTT GTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 9 131891344 131891347 GTTT - DEL PPP2R4 ENST00000452489 human ensembl 69_37n +1 known frame_shift_del c.402_405 p.F135fs 0.836:1.000:1.000:0.999 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 108 0 0.00 60 8 11.76 - - - RAI14 0 genome.wustl.edu 37 5 34823772 34823772 + Missense_Mutation SNP A A T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 5 34823772 34823772 A T SNP RAI14 ENST00000515799 human ensembl 69_37n +1 known missense c.1834 p.M612L 0.656 NULL pfam_Ankyrin_rpt,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 19 0 0.00 49 31 38.75 - - - RELA 0 genome.wustl.edu 37 11 65422220 65422220 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 11 65422220 65422220 T G SNP RELA ENST00000406246 human ensembl 69_37n -1 known missense c.1285 p.T429P 0.896 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELA HGNC ENSG00000173039 59 0 0.00 29 4 12.12 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 54 0 0.00 28 7 20.00 - - - RP1 0 genome.wustl.edu 37 8 55534763 55534763 + Silent SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 8 55534763 55534763 C T SNP RP1 ENST00000220676 human ensembl 69_37n +1 known silent c.702 p.I234 0.987 superfamily_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 176 0 0.00 153 53 25.73 - - - SDR39U1 0 genome.wustl.edu 37 14 24910213 24910213 + Splice_Site SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 14 24910213 24910213 A C SNP SDR39U1 ENST00000399390 human ensembl 69_37n -1 known splice_site c.43+2 e1+2 0.001 - - - no_errors SDR39U1 HGNC ENSG00000100445 45 0 0.00 37 8 17.78 - - - SEC14L6 0 genome.wustl.edu 37 22 30921505 30921505 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 22 30921505 30921505 A C SNP SEC14L6 ENST00000402034 human ensembl 69_37n -1 novel missense c.913 p.W305G 1.000 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L6 HGNC ENSG00000214491 60 0 0.00 36 10 21.74 - - - SETD2 0 genome.wustl.edu 37 3 47129736 47129736 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 47129736 47129736 A C SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known missense c.5144 p.V1715G 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 51 0 0.00 107 17 13.49 - - - SHMT1 0 genome.wustl.edu 37 17 18232119 18232119 + Missense_Mutation SNP T T C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 17 18232119 18232119 T C SNP SHMT1 ENST00000316694 human ensembl 69_37n -1 known missense c.1397 p.E466G 0.868 superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC ENSG00000176974 71 0 0.00 40 6 13.04 - - - SIGLEC1 0 genome.wustl.edu 37 20 3687197 3687197 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 20 3687197 3687197 A C SNP SIGLEC1 ENST00000344754 human ensembl 69_37n -1 known missense c.206 p.V69G 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 17 0 0.00 4 7 63.64 - - - SIX5 0 genome.wustl.edu 37 19 46269274 46269274 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 46269274 46269274 T G SNP SIX5 ENST00000317578 human ensembl 69_37n -1 known missense c.1705 p.T569P 0.992 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 101 1 0.98 40 5 10.87 - - - SLC7A14 0 genome.wustl.edu 37 3 170198117 170198117 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 170198117 170198117 T G SNP SLC7A14 ENST00000231706 human ensembl 69_37n -1 known missense c.1954 p.T652P 1.000 NULL pfam_AA-permease_dom - no_errors SLC7A14 HGNC ENSG00000013293 100 0 0.00 37 7 15.56 - - - SMAD3 0 genome.wustl.edu 37 15 67479838 67479838 + Missense_Mutation SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 15 67479838 67479838 C T SNP SMAD3 ENST00000327367 human ensembl 69_37n +1 known missense c.1145 p.A382V 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 214 0 0.00 61 26 28.89 - - - SPTBN4 0 genome.wustl.edu 37 19 41071621 41071621 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 41071621 41071621 T G SNP SPTBN4 ENST00000352632 human ensembl 69_37n +1 known missense c.6109 p.W2037G 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 198 1 0.50 69 15 17.44 - - - SRCAP 0 genome.wustl.edu 37 16 30736382 30736382 + Silent SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 16 30736382 30736382 A C SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known silent c.5637 p.P1879 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 50 0 0.00 15 6 28.57 - - - TMEM205 0 genome.wustl.edu 37 19 11453680 11453680 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 11453680 11453680 A C SNP TMEM205 ENST00000592952 human ensembl 69_37n -1 putative missense c.217 p.W73G 0.007 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region TMEM205 HGNC ENSG00000105518 128 0 0.00 49 11 18.33 - - - TUBA3FP 0 genome.wustl.edu 37 22 21363642 21363642 + RNA SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 22 21363642 21363642 A C SNP TUBA3FP ENST00000292748 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 131 0 0.00 41 10 18.87 - - - TUBB2B 0 genome.wustl.edu 37 6 3227744 3227744 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 3227744 3227744 A C SNP TUBB2B ENST00000259818 human ensembl 69_37n -1 known missense c.34 p.C12G 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 54 0 0.00 15 5 25.00 - - - TUBGCP4 0 genome.wustl.edu 37 15 43668321 43668321 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 15 43668321 43668321 A C SNP TUBGCP4 ENST00000260383 human ensembl 69_37n +1 known missense c.104 p.H35P 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP4 HGNC ENSG00000137822 241 0 0.00 63 14 17.95 - - - UBE2C 0 genome.wustl.edu 37 20 44441931 44441931 + Splice_Site SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 20 44441931 44441931 T G SNP UBE2C ENST00000372568 human ensembl 69_37n +1 known splice_site c.1+2 e0+2 0.000 - - - no_errors UBE2C HGNC ENSG00000175063 26 0 0.00 24 5 17.24 - - - UFSP1 0 genome.wustl.edu 37 7 100486564 100486564 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 7 100486564 100486564 A C SNP UFSP1 ENST00000388761 human ensembl 69_37n -1 known missense c.329 p.V110G 1.000 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP1 HGNC ENSG00000176125 133 1 0.75 58 15 20.55 - - - VILL 0 genome.wustl.edu 37 3 38039036 38039036 + Silent SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 3 38039036 38039036 T G SNP VILL ENST00000283713 human ensembl 69_37n +1 known silent c.624 p.G208 0.379 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC ENSG00000136059 200 2 0.99 53 13 19.70 - - - XAB2 0 genome.wustl.edu 37 19 7687733 7687733 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 19 7687733 7687733 A C SNP XAB2 ENST00000358368 human ensembl 69_37n -1 known missense c.1286 p.V429G 1.000 smart_HAT,pfscan_TPR-contain_dom smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 131 0 0.00 41 6 12.77 - - - XIRP2 0 genome.wustl.edu 37 2 168104724 168104724 + Silent SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 2 168104724 168104724 C T SNP XIRP2 ENST00000295237 human ensembl 69_37n +1 known silent c.6822 p.I2274 0.794 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC ENSG00000163092 21 0 0.00 39 16 29.09 - - - XKR7 0 genome.wustl.edu 37 20 30556255 30556255 + Missense_Mutation SNP A A C TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 20 30556255 30556255 A C SNP XKR7 ENST00000217299 human ensembl 69_37n +1 known missense c.277 p.T93P 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000101321 120 1 0.83 26 6 18.75 - - - ZSCAN12 0 genome.wustl.edu 37 6 28360727 28360727 + Missense_Mutation SNP C C T TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 6 28360727 28360727 C T SNP ZSCAN12 ENST00000361028 human ensembl 69_37n -1 known missense c.499 p.A167T 0.001 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 322 0 0.00 212 75 26.04 - - - ZSWIM2 0 genome.wustl.edu 37 2 187713647 187713647 + Missense_Mutation SNP T T G TCGA-A2-A0T6-01A-11D-A099-09 TCGA-A2-A0T6-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4dcb280-c309-4ebb-a58d-e6389a0306ee f0f5e37a-90f7-4800-b7d2-a514e8be3a13 2 187713647 187713647 T G SNP ZSWIM2 ENST00000419862 human ensembl 69_37n -1 known missense c.211 p.T71P 0.000 NULL NULL - no_errors ZSWIM2 HGNC ENSG00000163012 20 0 0.00 10 6 37.50 - - -