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 A2ML1 0 genome.wustl.edu 37 12 8998791 8998791 + Silent SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 12 8998791 8998791 C T SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known silent c.1656 p.F552 0.669 pfam_A2M_N_2 pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 254 0 0.00 236 94 28.48 - - - ALG11 0 genome.wustl.edu 37 13 52598472 52598472 + Missense_Mutation SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 13 52598472 52598472 C G SNP ALG11 ENST00000521508 human ensembl 69_37n +1 known missense c.606 p.I202M 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG11 HGNC ENSG00000253710 130 0 0.00 79 65 45.14 - - - APBB2 0 genome.wustl.edu 37 4 41015638 41015638 + Missense_Mutation SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 4 41015638 41015638 G A SNP APBB2 ENST00000295974 human ensembl 69_37n -1 known missense c.797 p.S266F 1.000 NULL pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB2 HGNC ENSG00000163697 146 0 0.00 103 39 27.46 - - - APTX 0 genome.wustl.edu 37 9 32987552 32987552 + Missense_Mutation SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 9 32987552 32987552 G C SNP APTX ENST00000379819 human ensembl 69_37n -1 known missense c.515 p.P172R 0.006 NULL pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT - no_errors APTX HGNC ENSG00000137074 192 0 0.00 119 38 24.20 - - - ARHGEF39 0 genome.wustl.edu 37 9 35664117 35664117 + Silent SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 9 35664117 35664117 G A SNP ARHGEF39 ENST00000378387 human ensembl 69_37n -1 known silent c.361 p.L121 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 132 0 0.00 118 29 19.73 - - - ATXN2L 0 genome.wustl.edu 37 16 28845927 28845927 + Silent SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 16 28845927 28845927 G C SNP ATXN2L ENST00000395547 human ensembl 69_37n +1 known silent c.2346 p.T782 0.674 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 63 0 0.00 68 9 11.54 - - - C12orf36 0 genome.wustl.edu 37 12 13526168 13526168 + Missense_Mutation SNP T T G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 12 13526168 13526168 T G SNP C12orf36 ENST00000318426 human ensembl 69_37n -1 known missense c.387 p.Q129H 0.000 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 265 0 0.00 264 99 27.27 - - - CADPS2 0 genome.wustl.edu 37 7 122153323 122153323 + Missense_Mutation SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 7 122153323 122153323 G A SNP CADPS2 ENST00000449022 human ensembl 69_37n -1 known missense c.1522 p.R508C 1.000 pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 161 0 0.00 82 44 34.92 - - - CBLB 0 genome.wustl.edu 37 3 105421211 105421211 + Silent SNP A A T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 3 105421211 105421211 A T SNP CBLB ENST00000264122 human ensembl 69_37n -1 known silent c.1686 p.P562 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 134 0 0.00 91 42 31.34 - - - CCDC103 0 genome.wustl.edu 37 17 42978466 42978466 + Missense_Mutation SNP T T A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 17 42978466 42978466 T A SNP CCDC103 ENST00000410006 human ensembl 69_37n +1 known missense c.100 p.L34I 0.993 NULL NULL - no_errors CCDC103 HGNC ENSG00000167131 125 0 0.00 62 30 32.61 - - - CDH23 0 genome.wustl.edu 37 10 73553149 73553149 + Missense_Mutation SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 10 73553149 73553149 C T SNP CDH23 ENST00000224721 human ensembl 69_37n +1 known missense c.6473 p.S2158L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH23 HGNC ENSG00000107736 33 0 0.00 25 22 46.81 - - - CHEK2 0 genome.wustl.edu 37 22 29115457 29115457 + Missense_Mutation SNP A A C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 22 29115457 29115457 A C SNP CHEK2 ENST00000382580 human ensembl 69_37n -1 known missense c.738 p.D246E 1.000 superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom - no_errors CHEK2 HGNC ENSG00000183765 70 0 0.00 72 20 21.74 - - - COL20A1 0 genome.wustl.edu 37 20 61942976 61942976 + Splice_Site SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 20 61942976 61942976 G A SNP COL20A1 ENST00000326996 human ensembl 69_37n +1 known splice_site c.1540-1 e12-1 0.999 - - - no_errors COL20A1 HGNC ENSG00000101203 25 0 0.00 13 10 43.48 - - - CUL9 0 genome.wustl.edu 37 6 43191035 43191035 + Missense_Mutation SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 43191035 43191035 C T SNP CUL9 ENST00000252050 human ensembl 69_37n +1 known missense c.7184 p.S2395F 0.999 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 33 0 0.00 17 13 41.94 - - - DENND1A 0 genome.wustl.edu 37 9 126520095 126520095 + Silent SNP T T A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 9 126520095 126520095 T A SNP DENND1A ENST00000394219 human ensembl 69_37n -1 known silent c.93 p.T31 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 81 0 0.00 49 29 37.18 - - - DHX16 0 genome.wustl.edu 37 6 30623036 30623036 + Silent SNP A A G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 30623036 30623036 A G SNP DHX16 ENST00000376442 human ensembl 69_37n -1 known silent c.2739 p.D913 0.998 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 76 0 0.00 90 27 23.08 - - - DNAH11 0 genome.wustl.edu 37 7 21639693 21639693 + Missense_Mutation SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 7 21639693 21639693 C G SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.2956 p.Q986E 0.991 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 39 0 0.00 50 20 28.57 - - - DNHD1 0 genome.wustl.edu 37 11 6592506 6592506 + Silent SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 11 6592506 6592506 C T SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known silent c.13764 p.H4588 0.986 pfam_Dynein_heavy pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 59 0 0.00 28 12 30.00 - - - DPRX 0 genome.wustl.edu 37 19 54139920 54139920 + Frame_Shift_Del DEL C C - TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 19 54139920 54139920 C - DEL DPRX ENST00000376650 human ensembl 69_37n +1 known frame_shift_del c.254 p.T85fs 0.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors DPRX HGNC ENSG00000204595 65 0 0.00 64 12 15.38 - - - EPHA2 0 genome.wustl.edu 37 1 16475071 16475071 + Missense_Mutation SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 1 16475071 16475071 C T SNP EPHA2 ENST00000358432 human ensembl 69_37n -1 known missense c.625 p.A209T 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA2 HGNC ENSG00000142627 41 0 0.00 23 11 32.35 - - - FAH 0 genome.wustl.edu 37 15 80454634 80454634 + Silent SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 15 80454634 80454634 C G SNP FAH ENST00000261755 human ensembl 69_37n +1 known silent c.411 p.V137 0.032 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 183 0 0.00 177 38 17.67 - - - FHL5 0 genome.wustl.edu 37 6 97051596 97051596 + Missense_Mutation SNP T T C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 97051596 97051596 T C SNP FHL5 ENST00000326771 human ensembl 69_37n +1 known missense c.107 p.V36A 0.777 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 131 0 0.00 92 43 31.85 - - - HIVEP3 0 genome.wustl.edu 37 1 41978910 41978910 + Silent SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 1 41978910 41978910 G C SNP HIVEP3 ENST00000247584 human ensembl 69_37n -1 known silent c.5982 p.P1994 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 29 0 0.00 18 14 43.75 - - - HSD17B4 0 genome.wustl.edu 37 5 118862855 118862855 + Missense_Mutation SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 5 118862855 118862855 G A SNP HSD17B4 ENST00000256216 human ensembl 69_37n +1 known missense c.1708 p.G570R 1.000 pfam_MaoC_deHydtase pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 126 0 0.00 67 38 36.19 - - - INTS1 0 genome.wustl.edu 37 7 1525118 1525118 + Silent SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 7 1525118 1525118 C T SNP INTS1 ENST00000389470 human ensembl 69_37n -1 known silent c.3450 p.E1150 0.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 31 0 0.00 18 26 59.09 - - - KIF25 0 genome.wustl.edu 37 6 168439275 168439275 + Silent SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 168439275 168439275 C G SNP KIF25 ENST00000354419 human ensembl 69_37n +1 known silent c.360 p.V120 0.444 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 145 0 0.00 51 83 61.94 - - - KLHL13 0 genome.wustl.edu 37 X 117033310 117033310 + Missense_Mutation SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 X 117033310 117033310 G C SNP KLHL13 ENST00000539496 human ensembl 69_37n -1 known missense c.1538 p.P513R 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL13 HGNC ENSG00000003096 143 0 0.00 119 45 27.44 - - - KLHL23 0 genome.wustl.edu 37 2 170592167 170592167 + Missense_Mutation SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 2 170592167 170592167 C G SNP KLHL23 ENST00000272797 human ensembl 69_37n +1 known missense c.643 p.R215G 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 54 0 0.00 47 9 16.07 - - - LINC00326 0 genome.wustl.edu 37 6 133421215 133421215 + RNA SNP A A T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 133421215 133421215 A T SNP LINC00326 ENST00000434443 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LINC00326 HGNC ENSG00000231023 195 0 0.00 146 59 28.64 - - - LRRC4B 0 genome.wustl.edu 37 19 51021954 51021954 + Missense_Mutation SNP C C A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 19 51021954 51021954 C A SNP LRRC4B ENST00000389201 human ensembl 69_37n -1 known missense c.1016 p.R339L 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 70 0 0.00 43 19 30.16 - - - LRRIQ3 0 genome.wustl.edu 37 1 74507371 74507371 + Missense_Mutation SNP A A C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 1 74507371 74507371 A C SNP LRRIQ3 ENST00000354431 human ensembl 69_37n -1 known missense c.1244 p.M415R 0.410 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 266 0 0.00 168 66 28.21 - - - LYNX1 0 genome.wustl.edu 37 8 143856615 143856615 + Silent SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 8 143856615 143856615 G A SNP LYNX1 ENST00000345173 human ensembl 69_37n -1 known silent c.321 p.I107 0.000 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYNX1 HGNC ENSG00000180155 47 0 0.00 38 16 29.63 - - - MGA 0 genome.wustl.edu 37 15 42058547 42058547 + Missense_Mutation SNP A A G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 15 42058547 42058547 A G SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.8267 p.Y2756C 0.218 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 70 0 0.00 29 21 42.00 - - - MME 0 genome.wustl.edu 37 3 154889935 154889935 + Silent SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 3 154889935 154889935 C T SNP MME ENST00000360490 human ensembl 69_37n +1 known silent c.2010 p.G670 0.008 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 154 1 0.65 148 96 39.34 - - - MTA3 0 genome.wustl.edu 37 2 42931438 42931438 + Missense_Mutation SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 2 42931438 42931438 G A SNP MTA3 ENST00000405094 human ensembl 69_37n +1 known missense c.1130 p.R377K 0.995 smart_Znf_GATA pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA3 HGNC ENSG00000057935 108 0 0.00 82 22 21.15 - - - N4BP2L2 0 genome.wustl.edu 37 13 33109915 33109915 + Missense_Mutation SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 13 33109915 33109915 G A SNP N4BP2L2 ENST00000267068 human ensembl 69_37n -1 known missense c.1250 p.T417I 0.997 pfam_Zeta_toxin_domain pfam_Zeta_toxin_domain - no_errors N4BP2L2 HGNC ENSG00000244754 61 0 0.00 28 24 45.28 - - - NEK5 0 genome.wustl.edu 37 13 52701581 52701581 + Missense_Mutation SNP C C A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 13 52701581 52701581 C A SNP NEK5 ENST00000355568 human ensembl 69_37n -1 known missense c.38 p.G13V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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_errors NEK5 HGNC ENSG00000197168 221 0 0.00 115 57 33.14 - - - NLRC5 0 genome.wustl.edu 37 16 57092939 57092940 + Frame_Shift_Ins INS - - TGTA TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 16 57092939 57092940 - TGTA INS NLRC5 ENST00000262510 human ensembl 69_37n +1 known frame_shift_ins c.3886_3887 p.P1296fs 0.779:0.769 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 148 0 0.00 65 40 38.10 - - - NLRC5 0 genome.wustl.edu 37 16 57092943 57092943 + Missense_Mutation SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 16 57092943 57092943 C G SNP NLRC5 ENST00000262510 human ensembl 69_37n +1 known missense c.3890 p.S1297C 0.383 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 144 0 0.00 62 42 40.00 - - - PCYT2 0 genome.wustl.edu 37 17 79864664 79864664 + Missense_Mutation SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 17 79864664 79864664 G C SNP PCYT2 ENST00000538721 human ensembl 69_37n -1 known missense c.702 p.I234M 1.000 tigrfam_Cyt_trans-rel pfam_Cytidylyltransf,tigrfam_Cyt_trans-rel - no_errors PCYT2 HGNC ENSG00000185813 57 0 0.00 54 15 21.74 - - - PIWIL2 0 genome.wustl.edu 37 8 22172647 22172647 + Missense_Mutation SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 8 22172647 22172647 G A SNP PIWIL2 ENST00000356766 human ensembl 69_37n +1 known missense c.2197 p.D733N 0.997 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 195 0 0.00 138 28 16.77 - - - PNMAL1 0 genome.wustl.edu 37 19 46973872 46973872 + Nonsense_Mutation SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 19 46973872 46973872 G A SNP PNMAL1 ENST00000313683 human ensembl 69_37n -1 known nonsense c.421 p.Q141* 0.008 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 42 0 0.00 37 13 26.00 - - - POGZ 0 genome.wustl.edu 37 1 151403234 151403234 + Missense_Mutation SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 1 151403234 151403234 G C SNP POGZ ENST00000271715 human ensembl 69_37n -1 known missense c.367 p.Q123E 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 133 0 0.00 176 29 14.15 - - - PPFIA4 0 genome.wustl.edu 37 1 203040821 203040821 + Missense_Mutation SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 1 203040821 203040821 C T SNP PPFIA4 ENST00000367240 human ensembl 69_37n +1 known missense c.3263 p.A1088V 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 93 0 0.00 68 28 29.17 - - - PRIC285 0 genome.wustl.edu 37 20 62197238 62197238 + Silent SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 20 62197238 62197238 C T SNP PRIC285 ENST00000467148 human ensembl 69_37n -1 known silent c.2937 p.E979 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 8 0 0.00 7 4 36.36 - - - PTCRA 0 genome.wustl.edu 37 6 42891993 42891993 + Missense_Mutation SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 42891993 42891993 C T SNP PTCRA ENST00000304672 human ensembl 69_37n +1 known missense c.406 p.P136S 0.015 NULL NULL - no_errors PTCRA HGNC ENSG00000171611 45 0 0.00 45 13 22.03 - - - PTH2 0 genome.wustl.edu 37 19 49926530 49926531 + In_Frame_Ins INS - - CAG TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 19 49926530 49926531 - CAG INS PTH2 ENST00000270631 human ensembl 69_37n -1 known in_frame_ins c.67_66 p.22in_frame_insL 0.016:0.016 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 15 0 0.00 13 3 18.75 - - - PTPRR 0 genome.wustl.edu 37 12 71054738 71054738 + Missense_Mutation SNP G G T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 12 71054738 71054738 G T SNP PTPRR ENST00000283228 human ensembl 69_37n -1 known missense c.1748 p.P583H 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 108 0 0.00 70 35 33.33 - - - PZP 0 genome.wustl.edu 37 12 9312950 9312950 + Silent SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 12 9312950 9312950 C T SNP PZP ENST00000261336 human ensembl 69_37n -1 known silent c.3009 p.T1003 0.000 superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 200 0 0.00 130 108 45.38 - - - RNA5-8SP6 0 genome.wustl.edu 37 Y 10037867 10037867 + RNA SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 Y 10037867 10037867 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 19 0 0.00 19 9 32.14 - - - RNU6-42 0 genome.wustl.edu 37 3 196511870 196511870 + RNA SNP C C T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 3 196511870 196511870 C T SNP RNU6-42 ENST00000384165 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RNU6-42 HGNC ENSG00000206892 10 0 0.00 4 4 50.00 - - - SCN3A 0 genome.wustl.edu 37 2 166020192 166020192 + Silent SNP G G T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 2 166020192 166020192 G T SNP SCN3A ENST00000283254 human ensembl 69_37n -1 known silent c.630 p.G210 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN3A HGNC ENSG00000153253 248 0 0.00 198 61 23.55 - - - SEMA5A 0 genome.wustl.edu 37 5 9202316 9202316 + Missense_Mutation SNP A A C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 5 9202316 9202316 A C SNP SEMA5A ENST00000382496 human ensembl 69_37n -1 known missense c.683 p.F228C 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 78 0 0.00 109 26 19.26 - - - SIGLEC16 0 genome.wustl.edu 37 19 50474928 50474928 + Silent SNP T T G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 19 50474928 50474928 T G SNP SIGLEC16 ENST00000456956 human ensembl 69_37n +1 known silent c.978 p.P326 0.253 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC16 HGNC ENSG00000161643 165 0 0.00 149 63 29.72 - - - SLC17A3 0 genome.wustl.edu 37 6 25862627 25862627 + Missense_Mutation SNP T T C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 25862627 25862627 T C SNP SLC17A3 ENST00000397060 human ensembl 69_37n -1 known missense c.137 p.H46R 0.014 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 191 0 0.00 186 53 22.18 - - - SPG11 0 genome.wustl.edu 37 15 44905735 44905735 + Splice_Site SNP C C A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 15 44905735 44905735 C A SNP SPG11 ENST00000261866 human ensembl 69_37n -1 known splice_site c.3039-1 e17-1 1.000 - - - no_errors SPG11 HGNC ENSG00000104133 146 0 0.00 89 14 13.59 - - - TCTE1 0 genome.wustl.edu 37 6 44253808 44253808 + Missense_Mutation SNP A A T TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 44253808 44253808 A T SNP TCTE1 ENST00000371505 human ensembl 69_37n -1 known missense c.739 p.Y247N 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 80 0 0.00 108 26 19.26 - - - TMEM106B 0 genome.wustl.edu 37 7 12258129 12258129 + Missense_Mutation SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 7 12258129 12258129 G C SNP TMEM106B ENST00000396667 human ensembl 69_37n +1 known missense c.263 p.R88T 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106B HGNC ENSG00000106460 202 0 0.00 154 42 21.43 - - - TMPPE 0 genome.wustl.edu 37 3 33135493 33135493 + Silent SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 3 33135493 33135493 G A SNP TMPPE ENST00000342462 human ensembl 69_37n -1 known silent c.195 p.R65 0.065 NULL pfam_Metallo_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 27 0 0.00 16 8 33.33 - - - TRAF7 0 genome.wustl.edu 37 16 2222552 2222552 + Missense_Mutation SNP C C A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 16 2222552 2222552 C A SNP TRAF7 ENST00000326181 human ensembl 69_37n +1 known missense c.746 p.A249D 1.000 superfamily_TRAF-like,pfscan_Znf_TRAF pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 11 0 0.00 6 7 53.85 - - - VPS13A 0 genome.wustl.edu 37 9 79955388 79955388 + Missense_Mutation SNP G G C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 9 79955388 79955388 G C SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.6948 p.M2316I 1.000 pfam_VPSAP pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 122 1 0.81 101 39 27.46 - - - VSIG10L 0 genome.wustl.edu 37 19 51841274 51841274 + Missense_Mutation SNP C C A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 19 51841274 51841274 C A SNP VSIG10L ENST00000335624 human ensembl 69_37n -1 known missense c.1918 p.G640C 0.889 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG10L HGNC ENSG00000186806 66 0 0.00 54 29 34.94 - - - WDR76 0 genome.wustl.edu 37 15 44134845 44134845 + Missense_Mutation SNP A A C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 15 44134845 44134845 A C SNP WDR76 ENST00000263795 human ensembl 69_37n +1 known missense c.854 p.E285A 0.013 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 139 0 0.00 64 28 30.43 - - - ZBTB22 0 genome.wustl.edu 37 6 33282945 33282945 + Frame_Shift_Del DEL C C - TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 6 33282945 33282945 C - DEL ZBTB22 ENST00000418724 human ensembl 69_37n -1 known frame_shift_del c.1749 p.P584fs 0.003 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 23 0 0.00 37 15 28.30 - - - ZEB2 0 genome.wustl.edu 37 2 145157550 145157550 + Missense_Mutation SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 2 145157550 145157550 C G SNP ZEB2 ENST00000303660 human ensembl 69_37n -1 known missense c.1204 p.V402L 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 132 0 0.00 90 33 26.61 - - - ZNF578 0 genome.wustl.edu 37 19 53014843 53014843 + Missense_Mutation SNP A A C TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 19 53014843 53014843 A C SNP ZNF578 ENST00000421239 human ensembl 69_37n +1 known missense c.1209 p.E403D 0.049 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 ZNF578 HGNC ENSG00000258405 135 0 0.00 105 40 27.59 - - - ZNF670 0 genome.wustl.edu 37 1 247201519 247201519 + Missense_Mutation SNP C C G TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 1 247201519 247201519 C G SNP ZNF670 ENST00000366503 human ensembl 69_37n -1 known missense c.402 p.E134D 0.984 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 ZNF670 HGNC ENSG00000135747 131 0 0.00 164 30 15.46 - - - ZNF8 0 genome.wustl.edu 37 19 58790466 58790466 + Missense_Mutation SNP G G A TCGA-BH-A0AV-01A-31D-A10Y-09 TCGA-BH-A0AV-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9032b7fe-e38a-4641-a45e-67041668adc4 3ab50b2e-8b0c-4ccd-b6bf-d577f5e9fc94 19 58790466 58790466 G A SNP ZNF8 ENST00000196548 human ensembl 69_37n +1 known missense c.19 p.G7R 0.010 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 ZNF8 HGNC ENSG00000083842 57 0 0.00 41 5 10.87 - - -