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 AADACL2 0 genome.wustl.edu 37 3 151474795 151474795 + Frame_Shift_Del DEL G G - TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 151474795 151474795 G - DEL AADACL2 ENST00000356517 human ensembl 69_37n +1 known frame_shift_del c.619 p.E207fs 0.192 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 238 0 0.00 252 94 26.18 - - - ABCB1 0 genome.wustl.edu 37 7 87225097 87225097 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 7 87225097 87225097 G A SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known silent c.102 p.V34 0.993 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 248 0 0.00 167 49 22.58 - - - ABCC4 0 genome.wustl.edu 37 13 95899945 95899945 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 13 95899945 95899945 G A SNP ABCC4 ENST00000376887 human ensembl 69_37n -1 known missense c.137 p.S46L 0.298 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 113 0 0.00 93 67 41.61 - - - ABR 0 genome.wustl.edu 37 17 959301 959301 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 959301 959301 G A SNP ABR ENST00000302538 human ensembl 69_37n -1 known missense c.1535 p.S512F 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,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 ABR HGNC ENSG00000159842 53 0 0.00 41 17 29.31 - - - AFF4 0 genome.wustl.edu 37 5 132224807 132224807 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 132224807 132224807 G C SNP AFF4 ENST00000265343 human ensembl 69_37n -1 known missense c.2696 p.S899C 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 109 0 0.00 173 63 26.69 - - - ALDH3B1 0 genome.wustl.edu 37 11 67793545 67793545 + RNA SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 67793545 67793545 G C SNP ALDH3B1 ENST00000007633 human ensembl 69_37n +1 known rna NULL NULL 0.034 - - - no_errors ALDH3B1 HGNC ENSG00000006534 12 0 0.00 10 5 33.33 - - - ALKBH1 0 genome.wustl.edu 37 14 78140379 78140379 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 14 78140379 78140379 C G SNP ALKBH1 ENST00000216489 human ensembl 69_37n -1 known missense c.946 p.D316H 0.001 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ENSG00000100601 92 0 0.00 156 50 24.15 - - - AP3M1 0 genome.wustl.edu 37 10 75889680 75889680 + Silent SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 75889680 75889680 G C SNP AP3M1 ENST00000355264 human ensembl 69_37n -1 known silent c.654 p.L218 0.998 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M1 HGNC ENSG00000185009 116 0 0.00 112 34 23.29 - - - ARAP1 0 genome.wustl.edu 37 11 72410547 72410547 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 72410547 72410547 C G SNP ARAP1 ENST00000393609 human ensembl 69_37n -1 known missense c.2353 p.E785Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 17 0 0.00 6 6 50.00 - - - ARFIP1 0 genome.wustl.edu 37 4 153802210 153802210 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 4 153802210 153802210 G C SNP ARFIP1 ENST00000353617 human ensembl 69_37n +1 known missense c.507 p.K169N 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP1 HGNC ENSG00000164144 196 0 0.00 142 80 35.87 - - - ATP1A4 0 genome.wustl.edu 37 1 160156095 160156095 + Missense_Mutation SNP A A G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 160156095 160156095 A G SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known missense c.2999 p.Y1000C 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 374 0 0.00 458 152 24.84 - - - ATP2B1 0 genome.wustl.edu 37 12 90003786 90003786 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 90003786 90003786 C T SNP ATP2B1 ENST00000261173 human ensembl 69_37n -1 known silent c.2370 p.Q790 1.000 pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ENSG00000070961 318 0 0.00 340 136 28.57 - - - ATP6V1B1 0 genome.wustl.edu 37 2 71186192 71186192 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 71186192 71186192 G A SNP ATP6V1B1 ENST00000234396 human ensembl 69_37n +1 known missense c.412 p.V138M 0.053 tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 33 0 0.00 40 6 13.04 - - - BAAT 0 genome.wustl.edu 37 9 104133644 104133644 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 9 104133644 104133644 C T SNP BAAT ENST00000259407 human ensembl 69_37n -1 known missense c.43 p.E15K 1.000 pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors BAAT HGNC ENSG00000136881 204 1 0.49 206 69 25.09 - - - BAK1 0 genome.wustl.edu 37 6 33541599 33541599 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 33541599 33541599 C T SNP BAK1 ENST00000360661 human ensembl 69_37n -1 known missense c.617 p.R206Q 1.000 NULL pfam_Bcl2_BH,smart_Bcl2_BH,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis - no_errors BAK1 HGNC ENSG00000030110 48 0 0.00 33 10 23.26 - - - BCCIP 0 genome.wustl.edu 37 10 127519144 127519144 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 127519144 127519144 C T SNP BCCIP ENST00000368759 human ensembl 69_37n +1 known missense c.335 p.S112L 1.000 NULL NULL - no_errors BCCIP HGNC ENSG00000107949 221 0 0.00 205 57 21.76 - - - BCKDHA 0 genome.wustl.edu 37 19 41928172 41928172 + Missense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 41928172 41928172 C A SNP BCKDHA ENST00000269980 human ensembl 69_37n +1 known missense c.750 p.F250L 1.000 pfam_DH_E1,pfam_Transketolase_N pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 22 0 0.00 20 6 23.08 - - - BLNK 0 genome.wustl.edu 37 10 97951825 97951825 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 97951825 97951825 G A SNP BLNK ENST00000224337 human ensembl 69_37n -1 known silent c.1275 p.I425 0.988 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC ENSG00000095585 217 0 0.00 241 80 24.92 - - - C19orf59 0 genome.wustl.edu 37 19 7743274 7743274 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 7743274 7743274 G C SNP C19orf59 ENST00000333598 human ensembl 69_37n +1 known missense c.361 p.E121Q 0.084 NULL NULL - no_errors C19orf59 HGNC ENSG00000183019 194 0 0.00 106 19 15.20 - - - C20orf194 0 genome.wustl.edu 37 20 3275242 3275242 + Silent SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 20 3275242 3275242 C G SNP C20orf194 ENST00000252032 human ensembl 69_37n -1 known silent c.2052 p.L684 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 76 0 0.00 80 39 32.77 - - - C3orf74 0 genome.wustl.edu 37 3 52097254 52097254 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 52097254 52097254 G A SNP C3orf74 ENST00000541313 human ensembl 69_37n -1 known missense c.314 p.T105I 0.000 NULL NULL - no_errors C3orf74 HGNC ENSG00000256097 99 0 0.00 23 13 36.11 - - - CACNA1C 0 genome.wustl.edu 37 12 2743501 2743501 + Missense_Mutation SNP G G T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 2743501 2743501 G T SNP CACNA1C ENST00000399634 human ensembl 69_37n +1 known missense c.3867 p.L1289F 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 33 0 0.00 13 5 27.78 - - - CAPN6 0 genome.wustl.edu 37 X 110489936 110489936 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 110489936 110489936 C G SNP CAPN6 ENST00000324068 human ensembl 69_37n -1 known missense c.1795 p.D599H 0.986 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 204 0 0.00 263 114 30.24 - - - CCDC117 0 genome.wustl.edu 37 22 29177137 29177137 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 22 29177137 29177137 G A SNP CCDC117 ENST00000249064 human ensembl 69_37n +1 known silent c.441 p.R147 0.997 NULL NULL - no_errors CCDC117 HGNC ENSG00000159873 60 0 0.00 71 34 32.38 - - - CCDC137 0 genome.wustl.edu 37 17 79634810 79634810 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 79634810 79634810 G C SNP CCDC137 ENST00000329214 human ensembl 69_37n +1 known missense c.186 p.E62D 0.993 NULL NULL - no_errors CCDC137 HGNC ENSG00000185298 8 0 0.00 13 11 45.83 - - - CCDC142 0 genome.wustl.edu 37 2 74709786 74709786 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 74709786 74709786 G A SNP CCDC142 ENST00000393965 human ensembl 69_37n -1 known missense c.179 p.P60L 0.000 NULL NULL - no_errors CCDC142 HGNC ENSG00000135637 25 0 0.00 9 9 47.37 - - - CCDC150 0 genome.wustl.edu 37 2 197531552 197531552 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 197531552 197531552 C T SNP CCDC150 ENST00000389175 human ensembl 69_37n +1 known missense c.872 p.S291L 0.074 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 143 0 0.00 110 24 17.91 - - - CCDC62 0 genome.wustl.edu 37 12 123290727 123290727 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 123290727 123290727 C T SNP CCDC62 ENST00000253079 human ensembl 69_37n +1 known missense c.1736 p.S579F 0.010 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 165 0 0.00 198 105 34.65 - - - CD1C 0 genome.wustl.edu 37 1 158261127 158261127 + Nonsense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 158261127 158261127 C A SNP CD1C ENST00000443761 human ensembl 69_37n +1 novel nonsense c.68 p.S23* 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CD1C HGNC ENSG00000158481 341 1 0.29 758 165 17.86 - - - CECR2 0 genome.wustl.edu 37 22 17978481 17978481 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 22 17978481 17978481 G A SNP CECR2 ENST00000400573 human ensembl 69_37n +1 novel missense c.379 p.E127K 0.999 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 74 0 0.00 87 19 17.92 - - - CGN 0 genome.wustl.edu 37 1 151509346 151509346 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 151509346 151509346 C T SNP CGN ENST00000271636 human ensembl 69_37n +1 known silent c.3447 p.I1149 1.000 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 60 0 0.00 81 25 23.58 - - - CHL1 0 genome.wustl.edu 37 3 423864 423864 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 423864 423864 G A SNP CHL1 ENST00000256509 human ensembl 69_37n +1 known missense c.1879 p.V627I 1.000 superfamily_Fibronectin_type3 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 CHL1 HGNC ENSG00000134121 216 0 0.00 186 74 28.46 - - - CHMP7 0 genome.wustl.edu 37 8 23116332 23116332 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 8 23116332 23116332 C G SNP CHMP7 ENST00000313219 human ensembl 69_37n +1 known missense c.1048 p.Q350E 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 31 0 0.00 47 20 29.85 - - - CKAP5 0 genome.wustl.edu 37 11 46772688 46772688 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 46772688 46772688 C T SNP CKAP5 ENST00000415402 human ensembl 69_37n -1 known missense c.5461 p.E1821K 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 182 0 0.00 257 88 25.51 - - - CLIC1 0 genome.wustl.edu 37 6 31701957 31701957 + Missense_Mutation SNP G G T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 31701957 31701957 G T SNP CLIC1 ENST00000375779 human ensembl 69_37n -1 known missense c.123 p.F41L 1.000 superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC1 HGNC ENSG00000213719 58 0 0.00 54 26 32.50 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43822569 43822569 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 9 43822569 43822569 C T SNP CNTNAP3B ENST00000377564 human ensembl 69_37n +1 known silent c.1123 p.L375 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 20 0 0.00 35 7 16.67 - - - COL4A6 0 genome.wustl.edu 37 X 107435807 107435807 + Missense_Mutation SNP T T C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 107435807 107435807 T C SNP COL4A6 ENST00000372216 human ensembl 69_37n -1 known missense c.1079 p.N360S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 30 0 0.00 19 8 28.57 - - - COL6A3 0 genome.wustl.edu 37 2 238280722 238280722 + Missense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 238280722 238280722 C A SNP COL6A3 ENST00000295550 human ensembl 69_37n -1 known missense c.3938 p.G1313V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 95 0 0.00 48 8 14.29 - - - CPSF6 0 genome.wustl.edu 37 12 69656161 69656161 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 69656161 69656161 G A SNP CPSF6 ENST00000266679 human ensembl 69_37n +1 known missense c.1589 p.R530Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 113 0 0.00 150 33 18.03 - - - CPXM1 0 genome.wustl.edu 37 20 2776783 2776783 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 20 2776783 2776783 C G SNP CPXM1 ENST00000380605 human ensembl 69_37n -1 known missense c.1267 p.E423Q 0.243 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors CPXM1 HGNC ENSG00000088882 72 0 0.00 34 9 20.93 - - - CRYBG3 0 genome.wustl.edu 37 3 97600022 97600022 + Missense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 97600022 97600022 C A SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.1267 p.Q423K 0.976 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 150 0 0.00 138 40 22.47 - - - CUL4B 0 genome.wustl.edu 37 X 119660675 119660675 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 119660675 119660675 C T SNP CUL4B ENST00000404115 human ensembl 69_37n -1 known missense c.2683 p.D895N 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 222 0 0.00 198 87 30.53 - - - DAP3 0 genome.wustl.edu 37 1 155699069 155699069 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 155699069 155699069 C G SNP DAP3 ENST00000343043 human ensembl 69_37n +1 known missense c.755 p.S252C 0.205 pfam_Ribosomal_S23/S29_mit pfam_Ribosomal_S23/S29_mit,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 104 0 0.00 249 70 21.94 - - - DDIT4L 0 genome.wustl.edu 37 4 101111134 101111134 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 4 101111134 101111134 C T SNP DDIT4L ENST00000273990 human ensembl 69_37n -1 known missense c.7 p.A3T 1.000 NULL pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 49 0 0.00 10 16 61.54 - - - DGCR14 0 genome.wustl.edu 37 22 19127373 19127373 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 22 19127373 19127373 C G SNP DGCR14 ENST00000252137 human ensembl 69_37n -1 known missense c.565 p.E189Q 1.000 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 65 0 0.00 45 6 11.76 - - - DGCR14 0 genome.wustl.edu 37 22 19130257 19130257 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 22 19130257 19130257 G A SNP DGCR14 ENST00000252137 human ensembl 69_37n -1 known missense c.286 p.R96W 0.989 pfam_Nuclear_protein_DGCR14 pfam_Nuclear_protein_DGCR14 - no_errors DGCR14 HGNC ENSG00000100056 39 0 0.00 42 15 25.42 - - - DHX16 0 genome.wustl.edu 37 6 30624478 30624478 + Missense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 30624478 30624478 C A SNP DHX16 ENST00000376442 human ensembl 69_37n -1 known missense c.2207 p.R736L 1.000 pfscan_Helicase_C 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 108 0 0.00 154 69 30.94 - - - DIDO1 0 genome.wustl.edu 37 20 61542600 61542600 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 20 61542600 61542600 C G SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known missense c.365 p.R122T 0.009 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 33 0 0.00 17 6 26.09 - - - DIO2 0 genome.wustl.edu 37 14 80677773 80677773 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 14 80677773 80677773 G A SNP DIO2 ENST00000422005 human ensembl 69_37n -1 known silent c.43 p.L15 1.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 37 0 0.00 36 13 26.53 - - - DISP2 0 genome.wustl.edu 37 15 40659881 40659881 + Nonsense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 15 40659881 40659881 C G SNP DISP2 ENST00000267889 human ensembl 69_37n +1 known nonsense c.1568 p.S523* 1.000 pfscan_SSD pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 55 0 0.00 24 10 29.41 - - - DMBT1 0 genome.wustl.edu 37 10 124351025 124351025 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 124351025 124351025 C T SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known missense c.2168 p.S723L 0.000 NULL pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 470 0 0.00 382 182 32.27 - - - DNAH11 0 genome.wustl.edu 37 7 21640303 21640303 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 7 21640303 21640303 G C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.3010 p.D1004H 1.000 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 876 0 0.00 1012 369 26.72 - - - DNAH8 0 genome.wustl.edu 37 6 38950129 38950129 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 38950129 38950129 G A SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known missense c.12191 p.R4064Q 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 497 1 0.20 509 91 15.17 - - - DSEL 0 genome.wustl.edu 37 18 65179785 65179785 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 18 65179785 65179785 G A SNP DSEL ENST00000310045 human ensembl 69_37n -1 known silent c.2091 p.I697 1.000 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 185 0 0.00 47 36 43.37 - - - DSTYK 0 genome.wustl.edu 37 1 205156711 205156711 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 205156711 205156711 G A SNP DSTYK ENST00000367162 human ensembl 69_37n -1 known silent c.489 p.V163 1.000 NULL 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 DSTYK HGNC ENSG00000133059 96 0 0.00 213 52 19.55 - - - DTNBP1 0 genome.wustl.edu 37 6 15524673 15524673 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 15524673 15524673 G C SNP DTNBP1 ENST00000338950 human ensembl 69_37n -1 known missense c.895 p.P299A 0.000 NULL pfam_Dysbindin,superfamily_PyrdxlP-dep_enz_bsu - no_errors DTNBP1 HGNC ENSG00000047579 172 0 0.00 150 37 19.79 - - - DUSP16 0 genome.wustl.edu 37 12 12630056 12630056 + Nonsense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 12630056 12630056 G C SNP DUSP16 ENST00000228862 human ensembl 69_37n -1 known nonsense c.1709 p.S570* 0.760 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 171 0 0.00 31 32 50.79 - - - DUSP16 0 genome.wustl.edu 37 12 12630252 12630252 + Nonsense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 12630252 12630252 G A SNP DUSP16 ENST00000228862 human ensembl 69_37n -1 known nonsense c.1513 p.R505* 0.501 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 126 0 0.00 30 25 45.45 - - - EFCAB7 0 genome.wustl.edu 37 1 64011606 64011606 + Nonsense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 64011606 64011606 C G SNP EFCAB7 ENST00000371088 human ensembl 69_37n +1 known nonsense c.824 p.S275* 0.990 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB7 HGNC ENSG00000203965 96 0 0.00 215 114 34.65 - - - EIF2B2 0 genome.wustl.edu 37 14 75470270 75470270 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 14 75470270 75470270 G A SNP EIF2B2 ENST00000266126 human ensembl 69_37n +1 known missense c.301 p.D101N 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 79 0 0.00 64 34 34.69 - - - EIF4A2 0 genome.wustl.edu 37 3 186504030 186504030 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 186504030 186504030 G C SNP EIF4A2 ENST00000440191 human ensembl 69_37n +1 known missense c.598 p.E200Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 68 0 0.00 56 26 31.71 - - - EIF4A2 0 genome.wustl.edu 37 3 186504350 186504351 + Frame_Shift_Del DEL GA GA - TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 186504350 186504351 GA - DEL EIF4A2 ENST00000440191 human ensembl 69_37n +1 known frame_shift_del c.690_691 p.D232fs 1.000:1.000 smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 112 0 0.00 83 20 19.23 - - - ELTD1 0 genome.wustl.edu 37 1 79357213 79357213 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 79357213 79357213 C G SNP ELTD1 ENST00000370742 human ensembl 69_37n -1 known missense c.2006 p.R669T 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors ELTD1 HGNC ENSG00000162618 108 0 0.00 68 29 29.90 - - - ERBB2IP 0 genome.wustl.edu 37 5 65338994 65338994 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 65338994 65338994 G A SNP ERBB2IP ENST00000284037 human ensembl 69_37n +1 known missense c.1396 p.E466K 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 195 0 0.00 181 88 32.71 - - - ERBB3 0 genome.wustl.edu 37 12 56490928 56490928 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 56490928 56490928 C G SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known missense c.2374 p.L792V 0.999 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,prints_Ser-Thr/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_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_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 ERBB3 HGNC ENSG00000065361 66 0 0.00 95 34 26.36 - - - ESRP1 0 genome.wustl.edu 37 8 95654281 95654281 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 8 95654281 95654281 C G SNP ESRP1 ENST00000433389 human ensembl 69_37n +1 known missense c.230 p.S77W 0.407 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 28 0 0.00 12 8 40.00 - - - FAAH 0 genome.wustl.edu 37 1 46872031 46872031 + Missense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 46872031 46872031 C A SNP FAAH ENST00000243167 human ensembl 69_37n +1 known missense c.942 p.F314L 1.000 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 26 0 0.00 15 8 34.78 - - - FAM123B 0 genome.wustl.edu 37 X 63413064 63413064 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 63413064 63413064 C T SNP FAM123B ENST00000330258 human ensembl 69_37n -1 known missense c.103 p.E35K 0.181 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC ENSG00000184675 227 0 0.00 219 91 29.35 - - - FAM208B 0 genome.wustl.edu 37 10 5788358 5788358 + Nonsense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 5788358 5788358 C T SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known nonsense c.2974 p.Q992* 0.002 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 102 0 0.00 91 45 33.09 - - - FAM46C 0 genome.wustl.edu 37 1 118166421 118166421 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 118166421 118166421 C T SNP FAM46C ENST00000369448 human ensembl 69_37n +1 known missense c.931 p.R311C 0.997 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46C HGNC ENSG00000183508 125 0 0.00 133 53 28.49 - - - FAM5C 0 genome.wustl.edu 37 1 190068000 190068000 + Missense_Mutation SNP A A T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 190068000 190068000 A T SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known missense c.1449 p.D483E 0.996 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 260 0 0.00 228 72 24.00 - - - FAT2 0 genome.wustl.edu 37 5 150935931 150935931 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 150935931 150935931 C G SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.3607 p.E1203Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 102 0 0.00 89 21 19.09 - - - FBXO28 0 genome.wustl.edu 37 1 224341019 224341019 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 224341019 224341019 G A SNP FBXO28 ENST00000366862 human ensembl 69_37n +1 known missense c.692 p.R231K 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO28 HGNC ENSG00000143756 215 0 0.00 447 86 16.14 - - - FBXO6 0 genome.wustl.edu 37 1 11728894 11728894 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 11728894 11728894 G C SNP FBXO6 ENST00000376753 human ensembl 69_37n +1 known missense c.179 p.R60P 0.030 superfamily_F-box_dom_cyclin-like pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom - no_errors FBXO6 HGNC ENSG00000116663 25 0 0.00 11 8 42.11 - - - FLG 0 genome.wustl.edu 37 1 152284025 152284025 + Missense_Mutation SNP G G T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 152284025 152284025 G T SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.3337 p.R1113S 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 377 0 0.00 414 103 19.92 - - - FLRT3 0 genome.wustl.edu 37 20 14307923 14307923 + Nonsense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 20 14307923 14307923 G C SNP FLRT3 ENST00000341420 human ensembl 69_37n -1 known nonsense c.230 p.S77* 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 273 0 0.00 414 49 10.58 - - - FMNL2 0 genome.wustl.edu 37 2 153488524 153488524 + Silent SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 153488524 153488524 C G SNP FMNL2 ENST00000288670 human ensembl 69_37n +1 known silent c.2553 p.L851 0.981 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 68 0 0.00 65 33 33.33 - - - FRK 0 genome.wustl.edu 37 6 116289838 116289838 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 116289838 116289838 G A SNP FRK ENST00000368626 human ensembl 69_37n -1 known silent c.531 p.L177 0.668 pfam_SH2,smart_SH2,pfscan_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,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors FRK HGNC ENSG00000111816 384 0 0.00 281 92 24.66 - - - GABRG3 0 genome.wustl.edu 37 15 27725853 27725853 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 15 27725853 27725853 C T SNP GABRG3 ENST00000333743 human ensembl 69_37n +1 known missense c.632 p.A211V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 171 0 0.00 141 60 29.85 - - - GCAT 0 genome.wustl.edu 37 22 38206084 38206084 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 22 38206084 38206084 G A SNP GCAT ENST00000248924 human ensembl 69_37n +1 known missense c.247 p.E83K 0.705 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 34 0 0.00 20 6 23.08 - - - GCOM1 0 genome.wustl.edu 37 15 57931737 57931737 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 15 57931737 57931737 C T SNP GCOM1 ENST00000380569 human ensembl 69_37n +1 known silent c.1113 p.V371 0.954 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 40 0 0.00 42 18 30.00 - - - GFAP 0 genome.wustl.edu 37 17 42990641 42990641 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 42990641 42990641 G A SNP GFAP ENST00000253408 human ensembl 69_37n -1 known missense c.776 p.S259F 1.000 pfam_F pfam_F - no_errors GFAP HGNC ENSG00000131095 75 0 0.00 36 10 21.74 - - - GFPT1 0 genome.wustl.edu 37 2 69601147 69601147 + Missense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 69601147 69601147 C A SNP GFPT1 ENST00000357308 human ensembl 69_37n -1 known missense c.106 p.D36Y 1.000 pfam_GATase_dom pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 279 0 0.00 426 97 18.55 - - - GOLGA3 0 genome.wustl.edu 37 12 133384794 133384794 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 133384794 133384794 G A SNP GOLGA3 ENST00000204726 human ensembl 69_37n -1 known silent c.861 p.I287 0.998 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 68 0 0.00 46 30 39.47 - - - GON4L 0 genome.wustl.edu 37 1 155785664 155785664 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 155785664 155785664 C G SNP GON4L ENST00000368331 human ensembl 69_37n -1 known missense c.1093 p.E365Q 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 63 0 0.00 161 19 10.56 - - - GPR125 0 genome.wustl.edu 37 4 22390354 22390354 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 4 22390354 22390354 C T SNP GPR125 ENST00000334304 human ensembl 69_37n -1 known silent c.2940 p.L980 0.991 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like - no_errors GPR125 HGNC ENSG00000152990 315 0 0.00 200 59 22.78 - - - GPR155 0 genome.wustl.edu 37 2 175337813 175337813 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 175337813 175337813 C T SNP GPR155 ENST00000295500 human ensembl 69_37n -1 known missense c.740 p.G247E 1.000 pfam_Auxin_eff pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 180 0 0.00 151 71 31.98 - - - GPR77 0 genome.wustl.edu 37 19 47845056 47845056 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 47845056 47845056 G A SNP GPR77 ENST00000257267 human ensembl 69_37n +1 known missense c.1000 p.E334K 0.963 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_C5A_anaphtx_rcpt - no_errors GPR77 HGNC ENSG00000134830 19 0 0.00 22 6 21.43 - - - GPR98 0 genome.wustl.edu 37 5 90079129 90079129 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 90079129 90079129 G A SNP GPR98 ENST00000405460 human ensembl 69_37n +1 known missense c.13420 p.D4474N 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 180 0 0.00 220 75 25.42 - - - GRAMD1A 0 genome.wustl.edu 37 19 35512464 35512464 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 35512464 35512464 G A SNP GRAMD1A ENST00000317991 human ensembl 69_37n +1 known missense c.1534 p.E512K 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 49 0 0.00 54 12 18.18 - - - GRIA1 0 genome.wustl.edu 37 5 153190725 153190725 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 153190725 153190725 G A SNP GRIA1 ENST00000448073 human ensembl 69_37n +1 known missense c.2691 p.M897I 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 82 0 0.00 79 26 24.53 - - - GRIK2 0 genome.wustl.edu 37 6 102124591 102124591 + Missense_Mutation SNP A A G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 102124591 102124591 A G SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.635 p.K212R 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 154 0 0.00 124 47 27.49 - - - HTT 0 genome.wustl.edu 37 4 3134377 3134377 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 4 3134377 3134377 C T SNP HTT ENST00000355072 human ensembl 69_37n +1 known silent c.2325 p.L775 0.000 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 226 0 0.00 118 94 44.34 - - - IFNK 0 genome.wustl.edu 37 9 27524397 27524397 + Missense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 9 27524397 27524397 C A SNP IFNK ENST00000276943 human ensembl 69_37n +1 known missense c.63 p.F21L 0.000 pfam_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNK HGNC ENSG00000147896 151 0 0.00 125 37 22.84 - - - IFT172 0 genome.wustl.edu 37 2 27672946 27672946 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 27672946 27672946 G C SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known missense c.3969 p.I1323M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 130 0 0.00 73 34 31.78 - - - IGHV3-53 0 genome.wustl.edu 37 14 107048827 107048827 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 14 107048827 107048827 C G SNP IGHV3-53 ENST00000390627 human ensembl 69_37n -1 known missense c.193 p.E65Q 0.998 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-53 HGNC ENSG00000211967 643 1 0.16 713 114 13.77 - - - IGKV3D-15 0 genome.wustl.edu 37 2 90153988 90153988 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 90153988 90153988 G A SNP IGKV3D-15 ENST00000417279 human ensembl 69_37n +1 known silent c.75 p.T25 0.999 pfam_Ig_V-set,pfam_Ig_I-set,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3D-15 HGNC ENSG00000224041 70 0 0.00 66 22 25.00 - - - IGKV3D-20 0 genome.wustl.edu 37 2 90077821 90077821 + Silent SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 90077821 90077821 C G SNP IGKV3D-20 ENST00000390270 human ensembl 69_37n +1 known silent c.45 p.L15 0.948 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV3D-20 HGNC ENSG00000211625 229 0 0.00 197 63 24.23 - - - IKBKAP 0 genome.wustl.edu 37 9 111668605 111668605 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 9 111668605 111668605 C T SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known missense c.1621 p.E541K 0.004 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 285 0 0.00 314 129 29.12 - - - IKBKAP 0 genome.wustl.edu 37 9 111670591 111670591 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 9 111670591 111670591 C T SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known missense c.1454 p.R485K 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 113 0 0.00 145 43 22.87 - - - IMPACT 0 genome.wustl.edu 37 18 22007922 22007922 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 18 22007922 22007922 G C SNP IMPACT ENST00000284202 human ensembl 69_37n +1 known missense c.76 p.E26Q 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors IMPACT HGNC ENSG00000154059 250 0 0.00 123 41 24.70 - - - INADL 0 genome.wustl.edu 37 1 62321852 62321852 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 62321852 62321852 G A SNP INADL ENST00000371158 human ensembl 69_37n +1 known missense c.2263 p.E755K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 246 0 0.00 575 209 26.66 - - - INADL 0 genome.wustl.edu 37 1 62330295 62330295 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 62330295 62330295 C G SNP INADL ENST00000371158 human ensembl 69_37n +1 known missense c.2825 p.P942R 0.001 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 160 0 0.00 425 62 12.73 - - - ITGAX 0 genome.wustl.edu 37 16 31374515 31374515 + Silent SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 16 31374515 31374515 C G SNP ITGAX ENST00000268296 human ensembl 69_37n +1 known silent c.1530 p.L510 0.927 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAX HGNC ENSG00000140678 56 0 0.00 58 16 21.62 - - - ITGB5 0 genome.wustl.edu 37 3 124560333 124560333 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 124560333 124560333 C G SNP ITGB5 ENST00000296181 human ensembl 69_37n -1 known missense c.677 p.R226T 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 97 0 0.00 74 29 28.16 - - - KANSL3 0 genome.wustl.edu 37 2 97279281 97279281 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 97279281 97279281 G C SNP KANSL3 ENST00000431828 human ensembl 69_37n -1 known missense c.739 p.L247V 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 224 0 0.00 238 98 29.17 - - - KCNH6 0 genome.wustl.edu 37 17 61622443 61622443 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 61622443 61622443 G C SNP KCNH6 ENST00000583023 human ensembl 69_37n +1 known missense c.2509 p.E837Q 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 50 0 0.00 27 6 18.18 - - - KIAA0368 0 genome.wustl.edu 37 9 114156470 114156470 + Silent SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 9 114156470 114156470 G C SNP KIAA0368 ENST00000259335 human ensembl 69_37n -1 known silent c.3426 p.V1142 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 48 0 0.00 75 17 18.48 - - - KIAA1009 0 genome.wustl.edu 37 6 84871614 84871614 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 84871614 84871614 C T SNP KIAA1009 ENST00000403245 human ensembl 69_37n -1 known missense c.2527 p.E843K 1.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 128 0 0.00 114 39 25.49 - - - KLK12 0 genome.wustl.edu 37 19 51532698 51532698 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 51532698 51532698 G A SNP KLK12 ENST00000250351 human ensembl 69_37n -1 known missense c.607 p.P203S 0.982 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors KLK12 HGNC ENSG00000186474 192 0 0.00 113 17 13.08 - - - KLK6 0 genome.wustl.edu 37 19 51466645 51466645 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 51466645 51466645 C T SNP KLK6 ENST00000310157 human ensembl 69_37n -1 known missense c.358 p.E120K 0.000 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors KLK6 HGNC ENSG00000167755 43 0 0.00 52 24 31.58 - - - KLRK1 0 genome.wustl.edu 37 12 10531194 10531194 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 10531194 10531194 G C SNP KLRK1 ENST00000240618 human ensembl 69_37n -1 known missense c.388 p.Q130E 0.033 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 257 0 0.00 404 63 13.49 - - - KRT18 0 genome.wustl.edu 37 12 53343222 53343222 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 53343222 53343222 G A SNP KRT18 ENST00000388835 human ensembl 69_37n +1 known missense c.265 p.D89N 1.000 pfam_F pfam_F,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 36 0 0.00 25 9 26.47 - - - LILRA2 0 genome.wustl.edu 37 19 55098711 55098711 + Silent SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 55098711 55098711 C A SNP LILRA2 ENST00000251377 human ensembl 69_37n +1 known silent c.1350 p.L450 0.011 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC ENSG00000239998 186 0 0.00 186 79 29.70 - - - LONRF1 0 genome.wustl.edu 37 8 12598445 12598445 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 8 12598445 12598445 G A SNP LONRF1 ENST00000398246 human ensembl 69_37n -1 known missense c.901 p.L301F 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 361 0 0.00 437 59 11.90 - - - LRP2 0 genome.wustl.edu 37 2 169997024 169997025 + Frame_Shift_Ins INS - - G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 169997024 169997025 - G INS LRP2 ENST00000263816 human ensembl 69_37n -1 known frame_shift_ins c.13140_13139 p.C4381fs 1.000:1.000 superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 35 0 0.00 68 9 11.69 - - - LRP2 0 genome.wustl.edu 37 2 170082970 170082970 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 170082970 170082970 C G SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.5356 p.D1786H 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 205 0 0.00 217 48 18.11 - - - LRRC16A 0 genome.wustl.edu 37 6 25500451 25500451 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 25500451 25500451 C T SNP LRRC16A ENST00000329474 human ensembl 69_37n +1 novel silent c.1383 p.L461 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 58 0 0.00 63 28 30.77 - - - LRRC52 0 genome.wustl.edu 37 1 165513765 165513765 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 165513765 165513765 G A SNP LRRC52 ENST00000294818 human ensembl 69_37n +1 known missense c.232 p.D78N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 366 0 0.00 592 124 17.32 - - - LRRTM4 0 genome.wustl.edu 37 2 77746900 77746900 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 77746900 77746900 C T SNP LRRTM4 ENST00000409911 human ensembl 69_37n -1 known missense c.98 p.R33K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 141 0 0.00 136 16 10.53 - - - LYPD6 0 genome.wustl.edu 37 2 150325179 150325179 + Nonsense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 150325179 150325179 C T SNP LYPD6 ENST00000334166 human ensembl 69_37n +1 known nonsense c.238 p.Q80* 1.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors LYPD6 HGNC ENSG00000187123 566 1 0.18 409 51 11.09 - - - MAGEB10 0 genome.wustl.edu 37 X 27839430 27839430 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 27839430 27839430 C G SNP MAGEB10 ENST00000356790 human ensembl 69_37n +1 known missense c.7 p.R3G 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 37 0 0.00 48 14 22.58 - - - MCM6 0 genome.wustl.edu 37 2 136598406 136598406 + Nonstop_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 136598406 136598406 C G SNP MCM6 ENST00000264156 human ensembl 69_37n -1 known nonstop c.2465 p.*822S 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 73 0 0.00 72 15 17.24 - - - MED13 0 genome.wustl.edu 37 17 60043906 60043906 + Missense_Mutation SNP T T A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 60043906 60043906 T A SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.4298 p.E1433V 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 156 0 0.00 185 73 28.29 - - - MEOX1 0 genome.wustl.edu 37 17 41738538 41738538 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 41738538 41738538 C T SNP MEOX1 ENST00000318579 human ensembl 69_37n -1 known missense c.365 p.G122D 0.996 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors MEOX1 HGNC ENSG00000005102 38 0 0.00 11 23 67.65 - - - MEP1A 0 genome.wustl.edu 37 6 46761439 46761439 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 46761439 46761439 C T SNP MEP1A ENST00000230588 human ensembl 69_37n +1 known missense c.131 p.S44L 0.994 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 129 0 0.00 127 50 28.25 - - - MIR550A1 0 genome.wustl.edu 37 7 30329505 30329505 + RNA SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 7 30329505 30329505 C T SNP MIR550A1 ENST00000385037 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors MIR550A1 HGNC ENSG00000207771 61 0 0.00 41 7 14.58 - - - MMP10 0 genome.wustl.edu 37 11 102650299 102650299 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 102650299 102650299 C G SNP MMP10 ENST00000279441 human ensembl 69_37n -1 known missense c.283 p.D95H 0.984 pirsf_Pept_M10A_matrix_strom,superfamily_Peptidoglycan-bd-like,prints_Pept_M10A_matrixin pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP10 HGNC ENSG00000166670 167 0 0.00 152 66 30.28 - - - MPDZ 0 genome.wustl.edu 37 9 13222437 13222437 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 9 13222437 13222437 C T SNP MPDZ ENST00000319217 human ensembl 69_37n -1 known missense c.542 p.R181K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 253 0 0.00 261 112 30.03 - - - MTMR8 0 genome.wustl.edu 37 X 63445342 63445342 + Missense_Mutation SNP G G T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 63445342 63445342 G T SNP MTMR8 ENST00000453546 human ensembl 69_37n -1 known missense c.1314 p.F438L 0.167 superfamily_Ankyrin_rpt-contain_dom pfam_Myotub-related,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors MTMR8 HGNC ENSG00000102043 160 0 0.00 200 31 13.42 - - - MTOR 0 genome.wustl.edu 37 1 11307746 11307746 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 11307746 11307746 C T SNP MTOR ENST00000361445 human ensembl 69_37n -1 known silent c.1161 p.L387 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 194 0 0.00 72 47 39.50 - - - MUC16 0 genome.wustl.edu 37 19 9026209 9026209 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 9026209 9026209 C G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.36777 p.E12259D 0.003 pfam_SEA,smart_SEA pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 553 1 0.18 511 252 32.94 - - - MUC16 0 genome.wustl.edu 37 19 9048939 9048939 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 9048939 9048939 G C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.32692 p.L10898V 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 893 1 0.11 840 425 33.49 - - - MUC16 0 genome.wustl.edu 37 19 9064816 9064816 + Silent SNP A A G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 9064816 9064816 A G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known silent c.22630 p.L7544 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 277 0 0.00 358 189 34.55 - - - MYH7 0 genome.wustl.edu 37 14 23884898 23884898 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 14 23884898 23884898 C T SNP MYH7 ENST00000355349 human ensembl 69_37n -1 known silent c.5097 p.R1699 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 49 0 0.00 61 10 14.08 - - - MYO1B 0 genome.wustl.edu 37 2 192257811 192257811 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 192257811 192257811 G A SNP MYO1B ENST00000304164 human ensembl 69_37n +1 known missense c.2089 p.E697K 1.000 smart_Myosin_head_motor_dom 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 MYO1B HGNC ENSG00000128641 139 0 0.00 74 11 12.94 - - - NAP1L3 0 genome.wustl.edu 37 X 92927869 92927869 + Silent SNP A A G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 92927869 92927869 A G SNP NAP1L3 ENST00000373079 human ensembl 69_37n -1 known silent c.435 p.D145 0.514 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 215 0 0.00 82 25 23.36 - - - NCK2 0 genome.wustl.edu 37 2 106509512 106509512 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 106509512 106509512 C T SNP NCK2 ENST00000233154 human ensembl 69_37n +1 known silent c.1023 p.V341 1.000 pfam_SH2,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2 pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 61 0 0.00 17 10 37.04 - - - NCOR1 0 genome.wustl.edu 37 17 16029456 16029457 + Frame_Shift_Ins INS - - T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 16029456 16029457 - T INS NCOR1 ENST00000268712 human ensembl 69_37n -1 known frame_shift_ins c.1574_1573 p.T525fs 1.000:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 93 0 0.00 91 35 27.78 - - - NINL 0 genome.wustl.edu 37 20 25442244 25442244 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 20 25442244 25442244 C G SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.3610 p.E1204Q 0.978 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 62 0 0.00 42 13 23.64 - - - NLGN2 0 genome.wustl.edu 37 17 7319011 7319011 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 7319011 7319011 G C SNP NLGN2 ENST00000302926 human ensembl 69_37n +1 known missense c.1219 p.D407H 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 85 0 0.00 38 21 35.59 - - - NPTX1 0 genome.wustl.edu 37 17 78447148 78447148 + Missense_Mutation SNP A A T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 78447148 78447148 A T SNP NPTX1 ENST00000306773 human ensembl 69_37n -1 known missense c.749 p.M250K 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 24 0 0.00 10 6 37.50 - - - NR5A2 0 genome.wustl.edu 37 1 200080383 200080383 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 200080383 200080383 C T SNP NR5A2 ENST00000367362 human ensembl 69_37n +1 known silent c.1164 p.L388 0.729 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 140 0 0.00 263 63 19.27 - - - NTNG1 0 genome.wustl.edu 37 1 107691311 107691311 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 107691311 107691311 G A SNP NTNG1 ENST00000370068 human ensembl 69_37n +1 known silent c.96 p.L32 1.000 NULL 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 198 0 0.00 82 20 19.61 - - - NTSR2 0 genome.wustl.edu 37 2 11800210 11800210 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 11800210 11800210 G A SNP NTSR2 ENST00000306928 human ensembl 69_37n -1 known silent c.948 p.R316 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_NT2_rcpt,prints_NT_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors NTSR2 HGNC ENSG00000169006 51 0 0.00 37 8 17.78 - - - NUSAP1 0 genome.wustl.edu 37 15 41663884 41663885 + Splice_Site INS - - A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 15 41663884 41663885 0 A INS NUSAP1 ENST00000559596 human ensembl 69_37n +1 known splice_site_ins c.1006+2_1006+1 e8+2 0.991:0.187 - - - no_errors NUSAP1 HGNC ENSG00000137804 33 0 0 80 9 10.11 - - - OIT3 0 genome.wustl.edu 37 10 74692229 74692229 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 74692229 74692229 C T SNP OIT3 ENST00000334011 human ensembl 69_37n +1 known silent c.1585 p.L529 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors OIT3 HGNC ENSG00000138315 59 0 0.00 63 27 30.00 - - - OR2L3 0 genome.wustl.edu 37 1 248224911 248224911 + Frame_Shift_Del DEL G G - TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 248224911 248224911 G - DEL OR2L3 ENST00000359959 human ensembl 69_37n +1 known frame_shift_del c.928 p.M312fs 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 276 0 0.00 307 74 19.37 - - - OR4C13 0 genome.wustl.edu 37 11 49974337 49974337 + Silent SNP T T C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 49974337 49974337 T C SNP OR4C13 ENST00000555099 human ensembl 69_37n +1 known silent c.363 p.Y121 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4C13 HGNC ENSG00000258817 543 0 0.00 540 182 25.14 - - - OR5D13 0 genome.wustl.edu 37 11 55540972 55540972 + Nonsense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 55540972 55540972 C G SNP OR5D13 ENST00000361760 human ensembl 69_37n +1 known nonsense c.59 p.S20* 0.959 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 530 0 0.00 466 165 26.15 - - - PAM 0 genome.wustl.edu 37 5 102343195 102343195 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 102343195 102343195 C T SNP PAM ENST00000379799 human ensembl 69_37n +1 putative missense c.1366 p.H456Y 0.998 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PAM HGNC ENSG00000145730 194 0 0.00 200 107 34.85 - - - PAPPA2 0 genome.wustl.edu 37 1 176564441 176564441 + Silent SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 176564441 176564441 G C SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known silent c.1701 p.L567 0.986 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 227 0 0.00 254 33 11.50 - - - PCDHGA9 0 genome.wustl.edu 37 5 140784572 140784572 + Nonsense_Mutation SNP G G T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 140784572 140784572 G T SNP PCDHGA9 ENST00000573521 human ensembl 69_37n +1 known nonsense c.2053 p.E685* 0.050 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 128 0 0.00 58 25 30.12 - - - PEG3 0 genome.wustl.edu 37 19 57327706 57327706 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 57327706 57327706 C T SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known missense c.2104 p.E702K 0.124 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 PEG3 HGNC ENSG00000198300 352 0 0.00 292 121 29.30 - - - PLEKHM3 0 genome.wustl.edu 37 2 208841568 208841568 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 208841568 208841568 C T SNP PLEKHM3 ENST00000447645 human ensembl 69_37n -1 known missense c.607 p.E203K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLEKHM3 HGNC ENSG00000178385 147 0 0.00 120 58 32.58 - - - PLK1 0 genome.wustl.edu 37 16 23692315 23692315 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 16 23692315 23692315 C G SNP PLK1 ENST00000300093 human ensembl 69_37n +1 known missense c.658 p.P220A 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_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK1 HGNC ENSG00000166851 201 0 0.00 143 63 30.58 - - - PPFIA4 0 genome.wustl.edu 37 1 203012602 203012602 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 203012602 203012602 G A SNP PPFIA4 ENST00000367240 human ensembl 69_37n +1 known silent c.312 p.L104 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_Prefoldin,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 17 0 0.00 16 5 23.81 - - - PPP1R15B 0 genome.wustl.edu 37 1 204379265 204379265 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 204379265 204379265 C T SNP PPP1R15B ENST00000367188 human ensembl 69_37n -1 known silent c.1275 p.L425 0.987 pfam_Prot_Pase1_reg-su15A/B_C pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15B HGNC ENSG00000158615 168 0 0.00 223 27 10.80 - - - PPP1R15B 0 genome.wustl.edu 37 1 204380369 204380369 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 204380369 204380369 C G SNP PPP1R15B ENST00000367188 human ensembl 69_37n -1 known missense c.171 p.E57D 0.968 pfam_Prot_Pase1_reg-su15B_N pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15B HGNC ENSG00000158615 75 0 0.00 75 22 22.68 - - - PPP2R3A 0 genome.wustl.edu 37 3 135825064 135825064 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 135825064 135825064 G C SNP PPP2R3A ENST00000264977 human ensembl 69_37n +1 known missense c.3229 p.E1077Q 1.000 NULL pfscan_EF_HAND_2 - no_errors PPP2R3A HGNC ENSG00000073711 129 0 0.00 130 54 29.35 - - - PRR4 0 genome.wustl.edu 37 12 11001988 11001988 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 11001988 11001988 G C SNP PRR4 ENST00000228811 human ensembl 69_37n -1 known missense c.49 p.Q17E 0.652 NULL NULL - no_errors PRR4 HGNC ENSG00000111215 53 0 0.00 115 27 19.01 - - - RAPGEF4 0 genome.wustl.edu 37 2 173885435 173885435 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 173885435 173885435 G A SNP RAPGEF4 ENST00000397081 human ensembl 69_37n +1 known missense c.2245 p.D749N 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 184 0 0.00 185 46 19.91 - - - RFPL3 0 genome.wustl.edu 37 22 32754312 32754312 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 22 32754312 32754312 C G SNP RFPL3 ENST00000249007 human ensembl 69_37n +1 known missense c.254 p.S85C 0.004 pfam_RDM_domain_RFPL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 166 0 0.00 165 53 24.31 - - - RFTN1 0 genome.wustl.edu 37 3 16450944 16450944 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 16450944 16450944 C G SNP RFTN1 ENST00000334133 human ensembl 69_37n -1 known missense c.379 p.D127H 1.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 72 0 0.00 71 26 26.80 - - - RGS22 0 genome.wustl.edu 37 8 101020623 101020623 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 8 101020623 101020623 C T SNP RGS22 ENST00000360863 human ensembl 69_37n -1 known missense c.2341 p.D781N 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC ENSG00000132554 254 0 0.00 223 93 29.43 - - - RHOA 0 genome.wustl.edu 37 3 49412905 49412905 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 49412905 49412905 C G SNP RHOA ENST00000418115 human ensembl 69_37n -1 known missense c.118 p.E40Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 136 0 0.00 229 70 23.41 - - - RHOT1 0 genome.wustl.edu 37 17 30503029 30503029 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 30503029 30503029 G A SNP RHOT1 ENST00000358365 human ensembl 69_37n +1 known missense c.271 p.D91N 1.000 pfam_MIRO-like,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_Miro,tigrfam_Small_GTP-bd_dom pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 108 0 0.00 64 34 34.69 - - - RNASE9 0 genome.wustl.edu 37 14 21024983 21024983 + Nonsense_Mutation SNP G G T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 14 21024983 21024983 G T SNP RNASE9 ENST00000338904 human ensembl 69_37n -1 known nonsense c.246 p.Y82* 0.002 pfam_RNaseA_domain,superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE9 HGNC ENSG00000188655 330 0 0.00 362 146 28.68 - - - RNF213 0 genome.wustl.edu 37 17 78318546 78318546 + Frame_Shift_Del DEL G G - TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 78318546 78318546 G - DEL RNF213 ENST00000582970 human ensembl 69_37n +1 known frame_shift_del c.6411 p.V2138fs 0.879 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 166 0 0.00 97 39 28.06 - - - RPL19 0 genome.wustl.edu 37 17 37359326 37359326 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 37359326 37359326 G A SNP RPL19 ENST00000225430 human ensembl 69_37n +1 known missense c.320 p.R107K 1.000 pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e pfam_Ribosomal_L19/L19e,superfamily_Ribosomal_L19/L19e - no_errors RPL19 HGNC ENSG00000108298 113 0 0.00 57 16 21.92 - - - RPP14 0 genome.wustl.edu 37 3 58296293 58296293 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 58296293 58296293 C T SNP RPP14 ENST00000295959 human ensembl 69_37n +1 known missense c.137 p.S46L 0.001 pfam_RNase_P/MRP_subunit pfam_RNase_P/MRP_subunit - no_errors RPP14 HGNC ENSG00000163684 185 0 0.00 138 59 29.95 - - - RRP15 0 genome.wustl.edu 37 1 218480877 218480877 + Nonsense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 218480877 218480877 C G SNP RRP15 ENST00000366932 human ensembl 69_37n +1 known nonsense c.608 p.S203* 0.997 pfam_DUF1665 pfam_DUF1665 - no_errors RRP15 HGNC ENSG00000067533 91 0 0.00 135 35 20.59 - - - RSG1 0 genome.wustl.edu 37 1 16560219 16560219 + Frame_Shift_Del DEL A A - TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 16560219 16560219 A - DEL RSG1 ENST00000375599 human ensembl 69_37n -1 known frame_shift_del c.153 p.I51fs 0.464 NULL pfam_MIRO-like,pfam_Small_GTPase,prints_Small_GTPase - no_errors RSG1 HGNC ENSG00000132881 37 0 0.00 21 3 12.50 - - - RYR2 0 genome.wustl.edu 37 1 237753282 237753282 + Nonsense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 237753282 237753282 C G SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known nonsense c.3782 p.S1261* 0.998 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 155 0 0.00 147 44 22.92 - - - S100PBP 0 genome.wustl.edu 37 1 33292196 33292196 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 33292196 33292196 G C SNP S100PBP ENST00000373475 human ensembl 69_37n +1 known missense c.496 p.D166H 0.998 NULL NULL - no_errors S100PBP HGNC ENSG00000116497 199 0 0.00 261 93 26.20 - - - SAGE1 0 genome.wustl.edu 37 X 134987483 134987483 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 134987483 134987483 C T SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known missense c.386 p.S129L 0.010 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 190 0 0.00 264 40 13.16 - - - SAMD9L 0 genome.wustl.edu 37 7 92764322 92764322 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 7 92764322 92764322 G C SNP SAMD9L ENST00000318238 human ensembl 69_37n -1 known missense c.963 p.F321L 0.342 NULL superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 849 0 0.00 618 175 22.04 - - - SASS6 0 genome.wustl.edu 37 1 100588021 100588021 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 100588021 100588021 G A SNP SASS6 ENST00000287482 human ensembl 69_37n -1 known missense c.226 p.L76F 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 112 0 0.00 120 56 31.82 - - - SDC1 0 genome.wustl.edu 37 2 20403830 20403831 + Frame_Shift_Ins INS - - G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 20403830 20403831 - G INS SDC1 ENST00000254351 human ensembl 69_37n -1 known frame_shift_ins c.371_370 p.R124fs 0.001:0.001 pfam_Syndecan pfam_Syndecan,smart_Neurexin-like - no_errors SDC1 HGNC ENSG00000115884 33 0 0.00 16 2 11.11 - - - SDCCAG8 0 genome.wustl.edu 37 1 243542029 243542029 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 243542029 243542029 G C SNP SDCCAG8 ENST00000366541 human ensembl 69_37n +1 known missense c.1480 p.E494Q 1.000 NULL NULL - no_errors SDCCAG8 HGNC ENSG00000054282 146 0 0.00 276 66 19.30 - - - SERPINA5 0 genome.wustl.edu 37 14 95053915 95053915 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 14 95053915 95053915 C G SNP SERPINA5 ENST00000329597 human ensembl 69_37n +1 known missense c.216 p.I72M 0.337 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA5 HGNC ENSG00000188488 160 0 0.00 149 51 25.37 - - - SESN2 0 genome.wustl.edu 37 1 28601371 28601371 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 28601371 28601371 C G SNP SESN2 ENST00000253063 human ensembl 69_37n +1 known missense c.1056 p.I352M 1.000 pfam_PA26 pfam_PA26 - no_errors SESN2 HGNC ENSG00000130766 132 0 0.00 143 46 24.34 - - - SEZ6L2 0 genome.wustl.edu 37 16 29907123 29907123 + Silent SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 16 29907123 29907123 C A SNP SEZ6L2 ENST00000308713 human ensembl 69_37n -1 known silent c.570 p.G190 0.388 superfamily_CUB,smart_CUB,pfscan_CUB pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 43 0 0.00 54 16 22.86 - - - SFRP4 0 genome.wustl.edu 37 7 37951790 37951790 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 7 37951790 37951790 G C SNP SFRP4 ENST00000436072 human ensembl 69_37n -1 known missense c.722 p.S241C 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 125 0 0.00 83 24 22.43 - - - SIGLEC7 0 genome.wustl.edu 37 19 51647792 51647792 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 51647792 51647792 C G SNP SIGLEC7 ENST00000317643 human ensembl 69_37n +1 known missense c.563 p.S188C 0.002 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 115 0 0.00 191 27 12.33 - - - SLC22A20 0 genome.wustl.edu 37 11 65004310 65004310 + RNA SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 65004310 65004310 G A SNP SLC22A20 ENST00000525437 human ensembl 69_37n +1 known rna NULL NULL 0.999 - - - no_errors SLC22A20 HGNC ENSG00000197847 40 0 0.00 34 12 26.09 - - - SLC22A23 0 genome.wustl.edu 37 6 3298444 3298444 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 6 3298444 3298444 G A SNP SLC22A23 ENST00000406686 human ensembl 69_37n -1 known missense c.1091 p.P364L 0.999 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 108 0 0.00 75 34 31.19 - - - SLC25A20 0 genome.wustl.edu 37 3 48896002 48896002 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 3 48896002 48896002 C T SNP SLC25A20 ENST00000319017 human ensembl 69_37n -1 known missense c.781 p.G261R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A20 HGNC ENSG00000178537 54 0 0.00 81 13 13.83 - - - SLC30A4 0 genome.wustl.edu 37 15 45778900 45778900 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 15 45778900 45778900 C G SNP SLC30A4 ENST00000261867 human ensembl 69_37n -1 known missense c.1044 p.L348F 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A4 HGNC ENSG00000104154 323 0 0.00 437 161 26.88 - - - SLC6A10P 0 genome.wustl.edu 37 16 32891004 32891004 + RNA SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 16 32891004 32891004 G A SNP SLC6A10P ENST00000330048 human ensembl 69_37n -1 known rna NULL NULL 0.995 - - - no_errors SLC6A10P HGNC ENSG00000214617 34 0 0.00 11 4 26.67 - - - SNORD115-43 0 genome.wustl.edu 37 15 25494388 25494388 + RNA SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 15 25494388 25494388 G A SNP SNORD115-43 ENST00000365503 human ensembl 69_37n +1 known rna NULL NULL 0.988 - - - no_errors SNORD115-43 HGNC ENSG00000202373 331 1 0.30 106 40 27.40 - - - SPATA4 0 genome.wustl.edu 37 4 177113882 177113882 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 4 177113882 177113882 G A SNP SPATA4 ENST00000280191 human ensembl 69_37n -1 known missense c.584 p.S195L 0.507 pfam_DUF1042 pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors SPATA4 HGNC ENSG00000150628 83 0 0.00 39 30 43.48 - - - SPIC 0 genome.wustl.edu 37 12 101876615 101876615 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 12 101876615 101876615 C G SNP SPIC ENST00000299272 human ensembl 69_37n +1 known missense c.256 p.L86V 0.978 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors SPIC HGNC ENSG00000166211 337 0 0.00 459 71 13.37 - - - SPTBN2 0 genome.wustl.edu 37 11 66468703 66468703 + Nonsense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 66468703 66468703 G C SNP SPTBN2 ENST00000309996 human ensembl 69_37n -1 known nonsense c.2867 p.S956* 0.989 pirsf_Spectrin_bsu 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,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type - no_errors SPTBN2 HGNC ENSG00000173898 15 0 0.00 14 6 30.00 - - - SRCAP 0 genome.wustl.edu 37 16 30747578 30747578 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 16 30747578 30747578 G A SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.6787 p.E2263K 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 52 0 0.00 80 20 20.00 - - - STYXL1 0 genome.wustl.edu 37 7 75634621 75634621 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 7 75634621 75634621 C G SNP STYXL1 ENST00000248600 human ensembl 69_37n -1 known missense c.555 p.L185F 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors STYXL1 HGNC ENSG00000127952 110 0 0.00 176 55 23.81 - - - SWI5 0 genome.wustl.edu 37 9 131050994 131050994 + Nonstop_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 9 131050994 131050994 G C SNP SWI5 ENST00000320188 human ensembl 69_37n +1 known nonstop c.707 p.*236S 0.998 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 150 0 0.00 254 97 27.56 - - - SYDE1 0 genome.wustl.edu 37 19 15224573 15224573 + Missense_Mutation SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 15224573 15224573 C A SNP SYDE1 ENST00000342784 human ensembl 69_37n +1 known missense c.2007 p.F669L 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 78 0 0.00 23 7 23.33 - - - TACC2 0 genome.wustl.edu 37 10 123842796 123842796 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 123842796 123842796 G A SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.781 p.E261K 0.002 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 41 0 0.00 28 20 41.67 - - - TACC2 0 genome.wustl.edu 37 10 123843603 123843603 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 123843603 123843603 G A SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.1588 p.A530T 0.018 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 127 0 0.00 85 29 25.44 - - - TACC2 0 genome.wustl.edu 37 10 123844256 123844256 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 123844256 123844256 G A SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.2241 p.M747I 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 79 0 0.00 46 18 28.12 - - - TACC2 0 genome.wustl.edu 37 10 123844803 123844803 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 123844803 123844803 G C SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.2788 p.E930Q 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 107 0 0.00 56 29 34.12 - - - TACC2 0 genome.wustl.edu 37 10 123846143 123846143 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 123846143 123846143 G C SNP TACC2 ENST00000334433 human ensembl 69_37n +1 known missense c.4128 p.R1376S 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 42 0 0.00 30 15 33.33 - - - TCERG1 0 genome.wustl.edu 37 5 145888737 145888737 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 145888737 145888737 C T SNP TCERG1 ENST00000296702 human ensembl 69_37n +1 known silent c.3024 p.I1008 1.000 superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 138 0 0.00 148 59 28.50 - - - THADA 0 genome.wustl.edu 37 2 43657437 43657437 + Missense_Mutation SNP T T A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 43657437 43657437 T A SNP THADA ENST00000405006 human ensembl 69_37n -1 known missense c.3841 p.T1281S 1.000 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 12 0 0.00 5 5 50.00 - - - THOC6 0 genome.wustl.edu 37 16 3075810 3075810 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 16 3075810 3075810 G A SNP THOC6 ENST00000326266 human ensembl 69_37n +1 known silent c.141 p.Q47 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors THOC6 HGNC ENSG00000131652 50 0 0.00 19 6 24.00 - - - TICAM1 0 genome.wustl.edu 37 19 4817009 4817009 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 4817009 4817009 C G SNP TICAM1 ENST00000248244 human ensembl 69_37n -1 known missense c.1381 p.D461H 0.075 pirsf_Tol-interleuk_rcpt_adapt_Ticam superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam - no_errors TICAM1 HGNC ENSG00000127666 19 0 0.00 13 6 31.58 - - - TLN2 0 genome.wustl.edu 37 15 62990048 62990048 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 15 62990048 62990048 G A SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.1454 p.R485Q 0.986 NULL pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 38 0 0.00 18 8 30.77 - - - TMEM38A 0 genome.wustl.edu 37 19 16799102 16799102 + Nonsense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 16799102 16799102 C T SNP TMEM38A ENST00000187762 human ensembl 69_37n +1 known nonsense c.820 p.Q274* 0.002 NULL pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 87 0 0.00 95 23 19.49 - - - TMEM48 0 genome.wustl.edu 37 1 54293790 54293790 + Nonsense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 54293790 54293790 G A SNP TMEM48 ENST00000371429 human ensembl 69_37n -1 known nonsense c.337 p.Q113* 0.999 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC ENSG00000058804 140 0 0.00 173 20 10.36 - - - TNFAIP8L2 0 genome.wustl.edu 37 1 151131244 151131244 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 151131244 151131244 G A SNP TNFAIP8L2 ENST00000368910 human ensembl 69_37n +1 known missense c.71 p.R24H 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L2 HGNC ENSG00000163154 93 0 0.00 209 32 13.28 - - - TNPO1 0 genome.wustl.edu 37 5 72151660 72151660 + Nonsense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 72151660 72151660 C T SNP TNPO1 ENST00000337273 human ensembl 69_37n +1 known nonsense c.265 p.Q89* 1.000 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 66 0 0.00 38 17 30.91 - - - TNPO1 0 genome.wustl.edu 37 5 72161500 72161500 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 5 72161500 72161500 C T SNP TNPO1 ENST00000337273 human ensembl 69_37n +1 known silent c.540 p.L180 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 154 0 0.00 160 98 37.98 - - - TRAPPC3 0 genome.wustl.edu 37 1 36603571 36603571 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 36603571 36603571 G A SNP TRAPPC3 ENST00000373166 human ensembl 69_37n -1 known silent c.249 p.F83 1.000 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 - no_errors TRAPPC3 HGNC ENSG00000054116 76 0 0.00 49 17 25.76 - - - TRIP11 0 genome.wustl.edu 37 14 92465767 92465767 + Missense_Mutation SNP A A G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 14 92465767 92465767 A G SNP TRIP11 ENST00000267622 human ensembl 69_37n -1 known missense c.4709 p.L1570S 1.000 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 135 0 0.00 163 62 27.56 - - - TTC18 0 genome.wustl.edu 37 10 75113458 75113458 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 75113458 75113458 C T SNP TTC18 ENST00000310715 human ensembl 69_37n -1 known missense c.106 p.E36K 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 159 0 0.00 176 78 30.71 - - - TTC4 0 genome.wustl.edu 37 1 55194063 55194063 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 55194063 55194063 G C SNP TTC4 ENST00000371281 human ensembl 69_37n +1 known missense c.639 p.K213N 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC ENSG00000243725 90 0 0.00 108 31 22.14 - - - TTN 0 genome.wustl.edu 37 2 179414943 179414943 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 179414943 179414943 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.83918 p.G27973A 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 233 0 0.00 165 64 27.95 - - - TTN 0 genome.wustl.edu 37 2 179417111 179417111 + Silent SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 179417111 179417111 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.82812 p.L27604 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 124 0 0.00 105 40 27.59 - - - TTN 0 genome.wustl.edu 37 2 179417322 179417322 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 179417322 179417322 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.82601 p.R27534T 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 126 0 0.00 97 40 28.78 - - - TTN 0 genome.wustl.edu 37 2 179417407 179417407 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 179417407 179417407 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.82516 p.E27506K 0.998 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 134 0 0.00 95 41 30.15 - - - TTN 0 genome.wustl.edu 37 2 179419748 179419748 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 179419748 179419748 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.80734 p.E26912K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 128 0 0.00 84 38 31.15 - - - TTN 0 genome.wustl.edu 37 2 179605967 179605967 + Missense_Mutation SNP A A G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 179605967 179605967 A G SNP TTN ENST00000342175 human ensembl 69_37n -1 known missense c.11480 p.V3827A 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 372 0 0.00 282 73 20.56 - - - TUBG2 0 genome.wustl.edu 37 17 40811929 40811929 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 17 40811929 40811929 G A SNP TUBG2 ENST00000251412 human ensembl 69_37n +1 known missense c.127 p.E43K 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Gamma_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_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 44 0 0.00 73 13 15.12 - - - UGGT1 0 genome.wustl.edu 37 2 128944345 128944345 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 128944345 128944345 C G SNP UGGT1 ENST00000259253 human ensembl 69_37n +1 known missense c.4448 p.S1483C 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 218 0 0.00 258 56 17.78 - - - USH2A 0 genome.wustl.edu 37 1 215932030 215932030 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 215932030 215932030 G C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.11296 p.Q3766E 0.977 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 312 0 0.00 365 107 22.67 - - - USH2A 0 genome.wustl.edu 37 1 215933100 215933100 + Silent SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 215933100 215933100 G C SNP USH2A ENST00000366943 human ensembl 69_37n -1 known silent c.11133 p.L3711 0.996 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 261 0 0.00 364 103 22.01 - - - VWA5A 0 genome.wustl.edu 37 11 123994096 123994096 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 11 123994096 123994096 G A SNP VWA5A ENST00000392748 human ensembl 69_37n +1 known silent c.954 p.K318 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 214 0 0.00 162 66 28.95 - - - WDFY3 0 genome.wustl.edu 37 4 85687113 85687114 + Frame_Shift_Ins INS - - T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 4 85687113 85687114 - T INS WDFY3 ENST00000295888 human ensembl 69_37n -1 known frame_shift_ins c.5038_5037 p.H1679fs 1.000:1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 358 0 0.00 229 152 39.90 - - - WDR33 0 genome.wustl.edu 37 2 128463946 128463946 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 128463946 128463946 G C SNP WDR33 ENST00000322313 human ensembl 69_37n -1 known missense c.3962 p.S1321C 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 189 0 0.00 71 34 32.38 - - - XKRX 0 genome.wustl.edu 37 X 100183269 100183269 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e X 100183269 100183269 C G SNP XKRX ENST00000328526 human ensembl 69_37n -1 known missense c.64 p.E22Q 0.739 NULL pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 628 0 0.00 393 193 32.88 - - - ZCWPW1 0 genome.wustl.edu 37 7 100016761 100016761 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 7 100016761 100016761 G C SNP ZCWPW1 ENST00000398027 human ensembl 69_37n -1 known missense c.334 p.L112V 1.000 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 113 0 0.00 221 61 21.63 - - - ZDHHC6 0 genome.wustl.edu 37 10 114205164 114205164 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 10 114205164 114205164 C G SNP ZDHHC6 ENST00000369405 human ensembl 69_37n -1 known missense c.31 p.E11Q 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC6 HGNC ENSG00000023041 91 0 0.00 81 33 28.95 - - - ZEB2 0 genome.wustl.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 2 145147383 145147383 C T SNP ZEB2 ENST00000303660 human ensembl 69_37n -1 known missense c.3280 p.E1094K 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 105 0 0.00 150 17 10.12 - - - ZFHX3 0 genome.wustl.edu 37 16 72923839 72923839 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 16 72923839 72923839 C G SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.3239 p.G1080A 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 99 0 0.00 70 41 36.94 - - - ZNF124 0 genome.wustl.edu 37 1 247320336 247320336 + Silent SNP A A G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 247320336 247320336 A G SNP ZNF124 ENST00000543802 human ensembl 69_37n -1 known silent c.588 p.H196 0.994 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 ZNF124 HGNC ENSG00000196418 263 1 0.38 326 51 13.49 - - - ZNF238 0 genome.wustl.edu 37 1 244217588 244217588 + Missense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 1 244217588 244217588 G C SNP ZNF238 ENST00000358704 human ensembl 69_37n +1 known missense c.512 p.G171A 0.999 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 ZNF238 HGNC ENSG00000179456 120 0 0.00 109 31 22.14 - - - ZNF3 0 genome.wustl.edu 37 7 99669144 99669144 + Silent SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 7 99669144 99669144 G A SNP ZNF3 ENST00000299667 human ensembl 69_37n -1 known silent c.963 p.F321 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF3 HGNC ENSG00000166526 141 0 0.00 147 33 18.33 - - - ZNF527 0 genome.wustl.edu 37 19 37880530 37880530 + Missense_Mutation SNP G G A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 37880530 37880530 G A SNP ZNF527 ENST00000436120 human ensembl 69_37n +1 known missense c.1579 p.E527K 0.998 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 ZNF527 HGNC ENSG00000189164 294 0 0.00 362 86 19.15 - - - ZNF547 0 genome.wustl.edu 37 19 57889020 57889020 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 57889020 57889020 C G SNP ZNF547 ENST00000282282 human ensembl 69_37n +1 known missense c.676 p.H226D 0.000 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 ZNF547 HGNC ENSG00000152433 447 0 0.00 412 189 31.45 - - - ZNF573 0 genome.wustl.edu 37 19 38230531 38230531 + Nonsense_Mutation SNP G G C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 38230531 38230531 G C SNP ZNF573 ENST00000590414 human ensembl 69_37n -1 known nonsense c.860 p.S287* 0.075 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 ZNF573 HGNC ENSG00000189144 342 0 0.00 823 96 10.43 - - - ZNF781 0 genome.wustl.edu 37 19 38160656 38160656 + Missense_Mutation SNP A A C TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 38160656 38160656 A C SNP ZNF781 ENST00000358582 human ensembl 69_37n -1 known missense c.394 p.L132V 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 219 0 0.00 413 106 20.42 - - - ZNF808 0 genome.wustl.edu 37 19 53057682 53057682 + Missense_Mutation SNP C C G TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 19 53057682 53057682 C G SNP ZNF808 ENST00000487863 human ensembl 69_37n +1 known missense c.1306 p.H436D 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF808 HGNC ENSG00000198482 542 0 0.00 556 70 11.18 - - - ZNF831 0 genome.wustl.edu 37 20 57769623 57769623 + Silent SNP C C A TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3bd68e94-d902-4079-8fdb-16edcc90de1c f53ea676-2475-408e-9b54-29324a255a2e 20 57769623 57769623 C A SNP ZNF831 ENST00000371030 human ensembl 69_37n +1 novel silent c.3549 p.L1183 0.891 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 39 0 0.00 14 7 33.33 - - -