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 ABCC3 0 genome.wustl.edu 37 17 48746861 48746861 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 48746861 48746861 G T SNP ABCC3 ENST00000285238 human ensembl 69_37n +1 known missense c.2213 p.G738V 0.993 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 132 0 0.00 102 23 18.11 - - - AHDC1 0 genome.wustl.edu 37 1 27874450 27874451 + Frame_Shift_Ins INS - - G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 27874450 27874451 - G INS AHDC1 ENST00000247087 human ensembl 69_37n -1 known frame_shift_ins c.4177_4176 p.G1392fs 1.000:0.017 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 59 0 0.00 19 6 24.00 - - - ALDH1L2 0 genome.wustl.edu 37 12 105456710 105456710 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 105456710 105456710 C A SNP ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known missense c.877 p.V293F 0.989 pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 232 1 0.43 187 24 11.32 - - - ALDOA 0 genome.wustl.edu 37 16 30079970 30079970 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 16 30079970 30079970 G C SNP ALDOA ENST00000338110 human ensembl 69_37n +1 known missense c.328 p.D110H 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOA HGNC ENSG00000149925 348 0 0.00 303 47 13.43 - - - ALYREF 0 genome.wustl.edu 37 17 79847099 79847100 + In_Frame_Ins INS - - CAT TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 79847099 79847100 - CAT INS ALYREF ENST00000505490 human ensembl 69_37n -1 known in_frame_ins c.497_496 p.166in_frame_insD 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ALYREF HGNC ENSG00000183684 256 1 0.39 141 166 54.07 - - - ANKMY1 0 genome.wustl.edu 37 2 241463462 241463462 + Nonsense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 241463462 241463462 C A SNP ANKMY1 ENST00000272972 human ensembl 69_37n -1 known nonsense c.1405 p.E469* 0.906 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 143 0 0.00 72 20 21.74 - - - ANKRD13B 0 genome.wustl.edu 37 17 27934851 27934851 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 27934851 27934851 C T SNP ANKRD13B ENST00000394859 human ensembl 69_37n +1 known missense c.206 p.A69V 0.915 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 24 0 0.00 9 5 35.71 - - - ANXA5 0 genome.wustl.edu 37 4 122590856 122590856 + Silent SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 4 122590856 122590856 G C SNP ANXA5 ENST00000296511 human ensembl 69_37n -1 known silent c.804 p.T268 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 137 0 0.00 146 24 14.12 - - - APBA2 0 genome.wustl.edu 37 15 29397678 29397678 + Missense_Mutation SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 15 29397678 29397678 A G SNP APBA2 ENST00000558259 human ensembl 69_37n +1 known missense c.1621 p.K541E 1.000 superfamily_PDZ,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 318 0 0.00 137 58 29.74 - - - APOB 0 genome.wustl.edu 37 2 21230517 21230517 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 21230517 21230517 C T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.9223 p.A3075T 0.083 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 186 0 0.00 137 31 18.45 - - - APOB 0 genome.wustl.edu 37 2 21239435 21239435 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 21239435 21239435 C G SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.3208 p.D1070H 0.977 pfam_Lipid_transpt_open_b-sht pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 339 0 0.00 249 61 19.61 - - - APP 0 genome.wustl.edu 37 21 27347382 27347382 + Splice_Site DEL C C - TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 21 27347382 27347382 C - DEL APP ENST00000346798 human ensembl 69_37n -1 known splice_site_del c.1458+1 e11+1 1.000 - - - no_errors APP HGNC ENSG00000142192 210 0 0.00 120 31 20.13 - - - ARRB1 0 genome.wustl.edu 37 11 74995294 74995294 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 74995294 74995294 G A SNP ARRB1 ENST00000393505 human ensembl 69_37n -1 known missense c.142 p.L48F 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 69 0 0.00 119 21 15.00 - - - ATP5B 0 genome.wustl.edu 37 12 57036286 57036286 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 57036286 57036286 C G SNP ATP5B ENST00000262030 human ensembl 69_37n -1 known missense c.1030 p.E344Q 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,smart_AAA+_ATPase,tigrfam_ATPase_F1-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/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,smart_AAA+_ATPase,tigrfam_ATPase_F1-cplx_bsu - no_errors ATP5B HGNC ENSG00000110955 393 0 0.00 373 52 12.24 - - - ATP8B3 0 genome.wustl.edu 37 19 1799950 1799950 + Silent SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 1799950 1799950 G T SNP ATP8B3 ENST00000539485 human ensembl 69_37n -1 known silent c.1548 p.V516 0.639 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC ENSG00000130270 126 0 0.00 98 18 15.52 - - - BDNF 0 genome.wustl.edu 37 11 27695705 27695705 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 27695705 27695705 C G SNP BDNF ENST00000438929 human ensembl 69_37n -1 known missense c.127 p.V43L 0.045 NULL pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 208 0 0.00 162 37 18.59 - - - BLZF1 0 genome.wustl.edu 37 1 169351347 169351347 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 169351347 169351347 C G SNP BLZF1 ENST00000329281 human ensembl 69_37n +1 known missense c.845 p.T282S 0.998 NULL pfam_DUF1721_fun - no_errors BLZF1 HGNC ENSG00000117475 293 0 0.00 421 115 21.46 - - - BRDT 0 genome.wustl.edu 37 1 92446610 92446610 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 92446610 92446610 C G SNP BRDT ENST00000362005 human ensembl 69_37n +1 known missense c.1625 p.P542R 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 160 0 0.00 202 83 29.12 - - - BRE 0 genome.wustl.edu 37 2 28521317 28521317 + Nonsense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 28521317 28521317 C G SNP BRE ENST00000344773 human ensembl 69_37n +1 known nonsense c.1047 p.Y349* 1.000 NULL pfam_Brain/reproduct-express_prot - no_errors BRE HGNC ENSG00000158019 341 0 0.00 283 63 18.16 - - - BZRAP1 0 genome.wustl.edu 37 17 56389025 56389025 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 56389025 56389025 C G SNP BZRAP1 ENST00000355701 human ensembl 69_37n -1 known missense c.2988 p.L996F 0.996 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 71 0 0.00 84 11 11.58 - - - C17orf80 0 genome.wustl.edu 37 17 71232219 71232219 + Missense_Mutation SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 71232219 71232219 A G SNP C17orf80 ENST00000359042 human ensembl 69_37n +1 known missense c.598 p.T200A 0.034 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 129 0 0.00 221 66 23.00 - - - C20orf152 0 genome.wustl.edu 37 20 34618474 34618474 + Nonsense_Mutation SNP T T G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 20 34618474 34618474 T G SNP C20orf152 ENST00000373973 human ensembl 69_37n +1 known nonsense c.1635 p.Y545* 0.791 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors C20orf152 HGNC ENSG00000149646 304 0 0.00 456 53 10.39 - - - C2orf73 0 genome.wustl.edu 37 2 54562103 54562103 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 54562103 54562103 C A SNP C2orf73 ENST00000398634 human ensembl 69_37n +1 known missense c.176 p.A59E 0.994 NULL NULL - no_errors C2orf73 HGNC ENSG00000177994 217 0 0.00 301 42 12.21 - - - CACNA2D1 0 genome.wustl.edu 37 7 81598259 81598259 + Missense_Mutation SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 7 81598259 81598259 A G SNP CACNA2D1 ENST00000356253 human ensembl 69_37n -1 known missense c.2375 p.I792T 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 134 0 0.00 114 71 38.38 - - - CCDC121 0 genome.wustl.edu 37 2 27851347 27851347 + Frame_Shift_Del DEL G G - TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 27851347 27851347 G - DEL CCDC121 ENST00000394775 human ensembl 69_37n -1 known frame_shift_del c.284 p.P95fs 0.002 NULL NULL - no_errors CCDC121 HGNC ENSG00000176714 105 0 0.00 83 13 13.00 - - - CD5 0 genome.wustl.edu 37 11 60890420 60890423 + Frame_Shift_Del DEL GCAA GCAA - TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 GCAA GCAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 60890420 60890423 GCAA - DEL CD5 ENST00000347785 human ensembl 69_37n +1 known frame_shift_del c.1141_1144 p.I383fs 0.043:0.005:0.003:0.959 prints_Tcell_CD5 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Tcell_CD5,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD5 HGNC ENSG00000110448 281 0 0.00 182 64 26.02 - - - CDH8 0 genome.wustl.edu 37 16 61854993 61854993 + Missense_Mutation SNP T T G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 16 61854993 61854993 T G SNP CDH8 ENST00000577390 human ensembl 69_37n -1 known missense c.860 p.E287A 1.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH8 HGNC ENSG00000150394 221 1 0.45 143 35 19.66 - - - CDK11B 0 genome.wustl.edu 37 1 1573246 1573246 + Splice_Site SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 1573246 1573246 C A SNP CDK11B ENST00000407249 human ensembl 69_37n -1 known splice_site c.1352-1 e14-1 1.000 - - - no_errors CDK11B HGNC ENSG00000248333 578 0 0.00 339 78 18.71 - - - CDV3 0 genome.wustl.edu 37 3 133306840 133306840 + Nonsense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 3 133306840 133306840 C T SNP CDV3 ENST00000264993 human ensembl 69_37n +1 known nonsense c.727 p.Q243* 1.000 NULL NULL - no_errors CDV3 HGNC ENSG00000091527 157 0 0.00 133 21 13.55 - - - CEP192 0 genome.wustl.edu 37 18 13087076 13087076 + Missense_Mutation SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 18 13087076 13087076 T C SNP CEP192 ENST00000506447 human ensembl 69_37n +1 known missense c.5677 p.S1893P 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 142 0 0.00 181 83 31.32 - - - CEP350 0 genome.wustl.edu 37 1 180000592 180000592 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 180000592 180000592 G C SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.3688 p.D1230H 0.945 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 60 0 0.00 87 13 13.00 - - - CLTC 0 genome.wustl.edu 37 17 57738819 57738819 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 57738819 57738819 C A SNP CLTC ENST00000269122 human ensembl 69_37n +1 known missense c.1183 p.P395T 1.000 superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 222 1 0.45 225 32 12.45 - - - CNGA3 0 genome.wustl.edu 37 2 98994171 98994171 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 98994171 98994171 G C SNP CNGA3 ENST00000272602 human ensembl 69_37n +1 known missense c.123 p.E41D 0.738 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 66 0 0.00 45 19 29.69 - - - COASY 0 genome.wustl.edu 37 17 40715169 40715169 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 40715169 40715169 G C SNP COASY ENST00000590958 human ensembl 69_37n +1 known missense c.616 p.A206P 0.845 NULL pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 126 0 0.00 96 13 11.82 - - - COL1A2 0 genome.wustl.edu 37 7 94043009 94043009 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 7 94043009 94043009 C T SNP COL1A2 ENST00000297268 human ensembl 69_37n +1 known missense c.1565 p.P522L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 271 0 0.00 248 45 15.36 - - - COQ10B 0 genome.wustl.edu 37 2 198334804 198334804 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 198334804 198334804 C G SNP COQ10B ENST00000263960 human ensembl 69_37n +1 known missense c.458 p.T153S 1.000 pfam_Polyket_cyc pfam_Polyket_cyc - no_errors COQ10B HGNC ENSG00000115520 424 0 0.00 465 118 20.24 - - - COX10 0 genome.wustl.edu 37 17 13980191 13980191 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 13980191 13980191 G A SNP COX10 ENST00000261643 human ensembl 69_37n +1 known missense c.317 p.S106N 0.000 pirsf_Protohaem_IX_farnesylTrfase_mt pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 287 0 0.00 152 47 23.50 - - - CPB2 0 genome.wustl.edu 37 13 46627925 46627925 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 13 46627925 46627925 G C SNP CPB2 ENST00000181383 human ensembl 69_37n -1 known missense c.1096 p.P366A 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 165 1 0.60 129 35 21.34 - - - CPEB2 0 genome.wustl.edu 37 4 15054069 15054069 + Silent SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 4 15054069 15054069 C G SNP CPEB2 ENST00000538197 human ensembl 69_37n +1 known silent c.2232 p.G744 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 701 0 0.00 681 95 12.23 - - - CPNE2 0 genome.wustl.edu 37 16 57153125 57153125 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 16 57153125 57153125 G C SNP CPNE2 ENST00000290776 human ensembl 69_37n +1 known missense c.526 p.D176H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE2 HGNC ENSG00000140848 245 0 0.00 163 36 18.09 - - - CREM 0 genome.wustl.edu 37 10 35500663 35500663 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 35500663 35500663 C G SNP CREM ENST00000395895 human ensembl 69_37n +1 known missense c.1018 p.Q340E 1.000 pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB pfam_bZIP_1,pfam_Coactivator_CBP_pKID,pfam_bZIP_2,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREM HGNC ENSG00000095794 160 0 0.00 136 35 20.47 - - - CSMD2 0 genome.wustl.edu 37 1 33990553 33990553 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 33990553 33990553 C T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.10325 p.G3442D 0.996 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 479 0 0.00 301 80 21.00 - - - CXADRP3 0 genome.wustl.edu 37 18 14478290 14478290 + RNA SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 18 14478290 14478290 G T SNP CXADRP3 ENST00000581457 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC ENSG00000265766 152 0 0.00 94 14 12.96 - - - CYP21A2 0 genome.wustl.edu 37 6 32006896 32006896 + Silent SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 6 32006896 32006896 G C SNP CYP21A2 ENST00000418967 human ensembl 69_37n +1 known silent c.318 p.P106 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 144 0 0.00 117 31 20.95 - - - CYP2A7 0 genome.wustl.edu 37 19 41383175 41383175 + Missense_Mutation SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 41383175 41383175 T C SNP CYP2A7 ENST00000301146 human ensembl 69_37n -1 known missense c.1081 p.R361G 0.997 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2B-like - no_errors CYP2A7 HGNC ENSG00000198077 389 0 0.00 299 53 15.06 - - - CYP2C9 0 genome.wustl.edu 37 10 96748684 96748684 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 96748684 96748684 C G SNP CYP2C9 ENST00000260682 human ensembl 69_37n +1 known missense c.1372 p.L458V 0.003 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C9 HGNC ENSG00000138109 539 0 0.00 302 63 17.26 - - - DBC1 0 genome.wustl.edu 37 9 122000956 122000956 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 122000956 122000956 G A SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known missense c.662 p.T221M 1.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 214 0 0.00 173 34 16.43 - - - DMD 0 genome.wustl.edu 37 X 32503137 32503137 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab X 32503137 32503137 C A SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.2702 p.G901V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 715 0 0.00 346 180 34.22 - - - DMGDH 0 genome.wustl.edu 37 5 78338282 78338282 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 78338282 78338282 C A SNP DMGDH ENST00000255189 human ensembl 69_37n -1 known missense c.1017 p.E339D 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 229 0 0.00 157 31 16.49 - - - ECD 0 genome.wustl.edu 37 10 74923668 74923668 + Missense_Mutation SNP T T G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 74923668 74923668 T G SNP ECD ENST00000430082 human ensembl 69_37n -1 known missense c.28 p.M10L 0.017 NULL pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 296 0 0.00 243 45 15.62 - - - EEF2K 0 genome.wustl.edu 37 16 22260122 22260122 + Missense_Mutation SNP A A C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 16 22260122 22260122 A C SNP EEF2K ENST00000263026 human ensembl 69_37n +1 known missense c.394 p.K132Q 1.000 superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 181 0 0.00 188 34 15.32 - - - EMID1 0 genome.wustl.edu 37 22 29611547 29611547 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 22 29611547 29611547 G T SNP EMID1 ENST00000334018 human ensembl 69_37n +1 known missense c.247 p.V83L 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 145 0 0.00 113 22 16.30 - - - EML5 0 genome.wustl.edu 37 14 89091378 89091378 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 89091378 89091378 G A SNP EML5 ENST00000554922 human ensembl 69_37n -1 known missense c.4834 p.P1612S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 140 0 0.00 66 40 37.74 - - - ERCC6 0 genome.wustl.edu 37 10 50681546 50681546 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 50681546 50681546 G A SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.2686 p.P896S 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 768 0 0.00 490 83 14.41 - - - FASTKD1 0 genome.wustl.edu 37 2 170394566 170394566 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 170394566 170394566 C G SNP FASTKD1 ENST00000453153 human ensembl 69_37n -1 known missense c.2031 p.Q677H 0.998 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 155 0 0.00 226 28 10.98 - - - FCGR1A 0 genome.wustl.edu 37 1 149755809 149755809 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 149755809 149755809 C G SNP FCGR1A ENST00000369168 human ensembl 69_37n +1 known missense c.303 p.H101Q 0.652 smart_Ig_sub,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCGR1A HGNC ENSG00000150337 272 0 0.00 214 57 21.03 - - - FCRL6 0 genome.wustl.edu 37 1 159785371 159785371 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 159785371 159785371 G A SNP FCRL6 ENST00000368106 human ensembl 69_37n +1 known missense c.1225 p.E409K 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL6 HGNC ENSG00000181036 415 0 0.00 500 61 10.85 - - - FLG2 0 genome.wustl.edu 37 1 152328814 152328814 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 152328814 152328814 C A SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.1448 p.G483V 0.009 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 678 1 0.15 387 127 24.71 - - - FSTL4 0 genome.wustl.edu 37 5 132535018 132535018 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 132535018 132535018 C T SNP FSTL4 ENST00000265342 human ensembl 69_37n -1 known silent c.2298 p.L766 0.996 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL4 HGNC ENSG00000053108 244 2 0.81 138 34 19.77 - - - FUT2 0 genome.wustl.edu 37 19 49206873 49206873 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 49206873 49206873 G A SNP FUT2 ENST00000391876 human ensembl 69_37n +1 known silent c.660 p.R220 0.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT2 HGNC ENSG00000176920 146 0 0.00 73 13 15.12 - - - FYCO1 0 genome.wustl.edu 37 3 46008278 46008278 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 3 46008278 46008278 C G SNP FYCO1 ENST00000535325 human ensembl 69_37n -1 known missense c.2548 p.E850Q 0.949 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 177 0 0.00 117 18 13.33 - - - GABBR2 0 genome.wustl.edu 37 9 101470750 101470750 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 101470750 101470750 G A SNP GABBR2 ENST00000259455 human ensembl 69_37n -1 known silent c.270 p.N90 0.999 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 49 0 0.00 32 6 15.79 - - - GALC 0 genome.wustl.edu 37 14 88406275 88406276 + Frame_Shift_Ins INS - - T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 88406275 88406276 - T INS GALC ENST00000261304 human ensembl 69_37n -1 known frame_shift_ins c.1885_1884 p.W628fs 0.998:0.261 pfam_Glyco_hydro_59 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 - no_errors GALC HGNC ENSG00000054983 318 0 0.00 191 42 18.03 - - - GALNT3 0 genome.wustl.edu 37 2 166611534 166611534 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 166611534 166611534 G A SNP GALNT3 ENST00000392701 human ensembl 69_37n -1 known missense c.1432 p.H478Y 0.993 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 146 1 0.68 87 36 29.27 - - - GIPC1 0 genome.wustl.edu 37 19 14589304 14589304 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 14589304 14589304 C T SNP GIPC1 ENST00000345425 human ensembl 69_37n -1 known missense c.926 p.G309D 0.998 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 96 0 0.00 52 14 20.90 - - - GNL2 0 genome.wustl.edu 37 1 38040001 38040001 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 38040001 38040001 C A SNP GNL2 ENST00000373062 human ensembl 69_37n -1 known missense c.1359 p.R453S 1.000 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 144 1 0.69 103 38 26.95 - - - GPR179 0 genome.wustl.edu 37 17 36487341 36487341 + Missense_Mutation SNP A A T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 36487341 36487341 A T SNP GPR179 ENST00000342292 human ensembl 69_37n -1 known missense c.2111 p.L704Q 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 208 0 0.00 147 22 13.02 - - - GRAMD1B 0 genome.wustl.edu 37 11 123476187 123476187 + Splice_Site SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 123476187 123476187 G A SNP GRAMD1B ENST00000322282 human ensembl 69_37n +1 known splice_site c.894+1 e9+1 1.000 - - - no_errors GRAMD1B HGNC ENSG00000023171 404 0 0.00 290 88 23.16 - - - GRIN2A 0 genome.wustl.edu 37 16 9862753 9862753 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 16 9862753 9862753 C T SNP GRIN2A ENST00000330684 human ensembl 69_37n -1 known silent c.2550 p.T850 0.082 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 187 0 0.00 82 42 33.60 - - - GSTA2 0 genome.wustl.edu 37 6 52616434 52616434 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 6 52616434 52616434 G A SNP GSTA2 ENST00000493422 human ensembl 69_37n -1 known missense c.487 p.L163F 0.906 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA2 HGNC ENSG00000244067 492 0 0.00 455 77 14.42 - - - HAP1 0 genome.wustl.edu 37 17 39889034 39889034 + Silent SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 39889034 39889034 T C SNP HAP1 ENST00000310778 human ensembl 69_37n -1 known silent c.486 p.L162 0.019 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 248 0 0.00 238 53 16.51 - - - HDAC6 0 genome.wustl.edu 37 X 48661392 48661392 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab X 48661392 48661392 G A SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.250 p.G84R 0.196 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 203 1 0.49 221 33 12.94 - - - HEG1 0 genome.wustl.edu 37 3 124731512 124731512 + Nonsense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 3 124731512 124731512 G A SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known nonsense c.2911 p.Q971* 0.007 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 446 1 0.22 250 60 19.35 - - - HIST1H2BC 0 genome.wustl.edu 37 6 26123825 26123825 + Missense_Mutation SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 6 26123825 26123825 A G SNP HIST1H2BC ENST00000314332 human ensembl 69_37n -1 known missense c.308 p.L103P 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 380 0 0.00 289 43 12.87 - - - HLA-A 0 genome.wustl.edu 37 6 29910336 29910336 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 6 29910336 29910336 C T SNP HLA-A ENST00000376806 human ensembl 69_37n +1 known silent c.6 p.A2 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC ENSG00000206503 40 0 0.00 29 7 18.92 - - - HMCN1 0 genome.wustl.edu 37 1 186014823 186014823 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 186014823 186014823 C T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.6308 p.P2103L 1.000 smart_Ig_V-set_subgr pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 298 2 0.67 325 72 18.14 - - - HRH2 0 genome.wustl.edu 37 5 175110861 175110861 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 175110861 175110861 G A SNP HRH2 ENST00000377291 human ensembl 69_37n +1 known missense c.625 p.A209T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H2_recept,prints_7TM_GPCR_Rhodpsn,prints_5HT6_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors HRH2 HGNC ENSG00000113749 158 1 0.62 181 30 14.22 - - - HRH4 0 genome.wustl.edu 37 18 22056805 22056805 + Missense_Mutation SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 18 22056805 22056805 T C SNP HRH4 ENST00000256906 human ensembl 69_37n +1 known missense c.452 p.I151T 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Histamine_H4_recept,prints_7TM_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 679 0 0.00 520 196 27.34 - - - HUWE1 0 genome.wustl.edu 37 X 53617397 53617397 + Missense_Mutation SNP A A T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab X 53617397 53617397 A T SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.4158 p.D1386E 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 483 0 0.00 363 82 18.39 - - - IFNB1 0 genome.wustl.edu 37 9 21077514 21077514 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 21077514 21077514 G A SNP IFNB1 ENST00000380232 human ensembl 69_37n -1 known silent c.355 p.L119 0.966 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_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 IFNB1 HGNC ENSG00000171855 410 0 0.00 242 36 12.95 - - - IGHV3-48 0 genome.wustl.edu 37 14 106994221 106994221 + Splice_Site SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 106994221 106994221 C A SNP IGHV3-48 ENST00000390624 human ensembl 69_37n -1 known splice_site c.46+1 e1+1 0.033 - - - no_stop_codon IGHV3-48 HGNC ENSG00000211964 840 1 0.12 440 112 20.29 - - - IKBKB 0 genome.wustl.edu 37 8 42171889 42171889 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 8 42171889 42171889 G T SNP IKBKB ENST00000520810 human ensembl 69_37n +1 known missense c.742 p.D248Y 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 673 0 0.00 661 99 13.01 - - - INTS1 0 genome.wustl.edu 37 7 1527563 1527563 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 7 1527563 1527563 C T SNP INTS1 ENST00000389470 human ensembl 69_37n -1 known silent c.2733 p.T911 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 198 0 0.00 146 19 11.45 - - - ITGA9 0 genome.wustl.edu 37 3 37778446 37778446 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 3 37778446 37778446 G A SNP ITGA9 ENST00000264741 human ensembl 69_37n +1 known missense c.2206 p.V736I 0.003 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 434 0 0.00 329 65 16.50 - - - ITM2A 0 genome.wustl.edu 37 X 78616643 78616643 + Nonsense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab X 78616643 78616643 C T SNP ITM2A ENST00000373298 human ensembl 69_37n -1 known nonsense c.735 p.W245* 0.995 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2A HGNC ENSG00000078596 142 0 0.00 120 16 11.76 - - - KCNK3 0 genome.wustl.edu 37 2 26950777 26950777 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 26950777 26950777 G A SNP KCNK3 ENST00000302909 human ensembl 69_37n +1 known missense c.526 p.A176T 0.991 pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK1,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 109 0 0.00 63 11 14.67 - - - KCNQ2 0 genome.wustl.edu 37 20 62070997 62070997 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 20 62070997 62070997 G T SNP KCNQ2 ENST00000354587 human ensembl 69_37n -1 known missense c.881 p.A294E 0.989 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 132 1 0.75 124 85 40.48 - - - KCTD21 0 genome.wustl.edu 37 11 77885303 77885303 + Nonsense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 77885303 77885303 C A SNP KCTD21 ENST00000340067 human ensembl 69_37n -1 known nonsense c.298 p.E100* 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 287 1 0.35 252 39 13.40 - - - KIAA0913 0 genome.wustl.edu 37 10 75561184 75561184 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 75561184 75561184 G A SNP KIAA0913 ENST00000412198 human ensembl 69_37n +1 known missense c.3245 p.S1082N 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA0913 HGNC ENSG00000214655 201 0 0.00 142 38 20.99 - - - KIAA1614 0 genome.wustl.edu 37 1 180885366 180885366 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 180885366 180885366 C G SNP KIAA1614 ENST00000367588 human ensembl 69_37n +1 known missense c.127 p.Q43E 0.182 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 68 0 0.00 51 9 15.00 - - - KIF20B 0 genome.wustl.edu 37 10 91498778 91498779 + Frame_Shift_Ins INS - - A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 91498778 91498779 - A INS KIF20B ENST00000416354 human ensembl 69_37n +1 known frame_shift_ins c.3930_3931 p.E1311fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 215 0 0.00 323 70 17.81 - - - KIF3A 0 genome.wustl.edu 37 5 132038596 132038596 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 132038596 132038596 C A SNP KIF3A ENST00000378735 human ensembl 69_37n -1 known missense c.1556 p.R519I 0.997 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 564 0 0.00 431 84 16.31 - - - KIFC1 0 genome.wustl.edu 37 6 33371093 33371093 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 6 33371093 33371093 C G SNP KIFC1 ENST00000428849 human ensembl 69_37n +1 known missense c.253 p.Q85E 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 199 0 0.00 243 34 12.27 - - - KRT82 0 genome.wustl.edu 37 12 52800015 52800016 + Frame_Shift_Del DEL CT CT - TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 52800015 52800016 CT - DEL KRT82 ENST00000257974 human ensembl 69_37n -1 known frame_shift_del c.47_46 p.S16fs 0.355:0.086 NULL pfam_F,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 74 0 0.00 74 30 28.57 - - - KRTAP10-4 0 genome.wustl.edu 37 21 45993856 45993856 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 21 45993856 45993856 C T SNP KRTAP10-4 ENST00000400374 human ensembl 69_37n +1 known missense c.221 p.P74L 0.124 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 187 0 0.00 77 16 17.20 - - - KRTAP17-1 0 genome.wustl.edu 37 17 39471833 39471833 + Missense_Mutation SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 39471833 39471833 A G SNP KRTAP17-1 ENST00000334202 human ensembl 69_37n -1 known missense c.70 p.C24R 1.000 NULL NULL - no_errors KRTAP17-1 HGNC ENSG00000186860 58 0 0.00 25 8 24.24 - - - LAMB2 0 genome.wustl.edu 37 3 49166019 49166019 + Splice_Site SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 3 49166019 49166019 C T SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known splice_site c.1891-1 e15-1 1.000 - - - no_errors LAMB2 HGNC ENSG00000172037 134 0 0.00 38 18 32.14 - - - LEKR1 0 genome.wustl.edu 37 3 156547155 156547155 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 3 156547155 156547155 G C SNP LEKR1 ENST00000356539 human ensembl 69_37n +1 known missense c.37 p.E13Q 1.000 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000178110 336 0 0.00 258 50 16.18 - - - LGALS13 0 genome.wustl.edu 37 19 40095264 40095264 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 40095264 40095264 C G SNP LGALS13 ENST00000221797 human ensembl 69_37n +1 known missense c.38 p.S13C 0.065 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALS13 HGNC ENSG00000105198 506 0 0.00 391 77 16.45 - - - LHX2 0 genome.wustl.edu 37 9 126776287 126776288 + Frame_Shift_Ins INS - - A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 126776287 126776288 - A INS LHX2 ENST00000373615 human ensembl 69_37n +1 known frame_shift_ins c.168_169 p.G56fs 0.995:1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LHX2 HGNC ENSG00000106689 42 0 0.00 25 7 21.88 - - - LIPA 0 genome.wustl.edu 37 10 90986702 90986702 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 90986702 90986702 G A SNP LIPA ENST00000425287 human ensembl 69_37n -1 known missense c.494 p.T165I 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 404 0 0.00 335 62 15.62 - - - LPAR5 0 genome.wustl.edu 37 12 6730247 6730247 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 6730247 6730247 C T SNP LPAR5 ENST00000329858 human ensembl 69_37n -1 known silent c.168 p.V56 0.985 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors LPAR5 HGNC ENSG00000184574 260 0 0.00 190 30 13.64 - - - LPIN1 0 genome.wustl.edu 37 2 11911547 11911547 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 11911547 11911547 C T SNP LPIN1 ENST00000449576 human ensembl 69_37n +1 known missense c.485 p.A162V 0.041 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 166 0 0.00 128 34 20.99 - - - LRIT2 0 genome.wustl.edu 37 10 85982013 85982013 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 85982013 85982013 G T SNP LRIT2 ENST00000538192 human ensembl 69_37n -1 known missense c.1346 p.P449H 0.904 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIT2 HGNC ENSG00000204033 134 1 0.74 91 17 15.74 - - - LSM5 0 genome.wustl.edu 37 7 32528913 32528913 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 7 32528913 32528913 C T SNP LSM5 ENST00000450169 human ensembl 69_37n -1 known missense c.90 p.M30I 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM5 HGNC ENSG00000106355 183 0 0.00 252 44 14.81 - - - LSM6 0 genome.wustl.edu 37 4 147104112 147104112 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 4 147104112 147104112 G A SNP LSM6 ENST00000296581 human ensembl 69_37n +1 known silent c.39 p.K13 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSM6 HGNC ENSG00000164167 248 0 0.00 221 38 14.67 - - - MAN1A2 0 genome.wustl.edu 37 1 118003225 118003225 + Nonsense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 118003225 118003225 C G SNP MAN1A2 ENST00000356554 human ensembl 69_37n +1 known nonsense c.1065 p.Y355* 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 432 0 0.00 365 48 11.62 - - - MBL2 0 genome.wustl.edu 37 10 54528028 54528028 + Missense_Mutation SNP T T G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 54528028 54528028 T G SNP MBL2 ENST00000373968 human ensembl 69_37n -1 known missense c.616 p.T206P 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 498 1 0.20 308 71 18.73 - - - MBTPS2 0 genome.wustl.edu 37 X 21886678 21886678 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab X 21886678 21886678 G C SNP MBTPS2 ENST00000379484 human ensembl 69_37n +1 known missense c.764 p.G255A 0.999 pfam_Peptidase_M50,superfamily_PDZ pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP - no_errors MBTPS2 HGNC ENSG00000012174 897 0 0.00 434 206 32.19 - - - MLL2 0 genome.wustl.edu 37 12 49424516 49424516 + Silent SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 49424516 49424516 G T SNP MLL2 ENST00000301067 human ensembl 69_37n -1 known silent c.13707 p.I4569 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC ENSG00000167548 37 0 0.00 58 8 12.12 - - - MPHOSPH10 0 genome.wustl.edu 37 2 71360505 71360505 + Missense_Mutation SNP A A C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 71360505 71360505 A C SNP MPHOSPH10 ENST00000244230 human ensembl 69_37n +1 known missense c.567 p.K189N 0.000 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 223 0 0.00 215 94 30.42 - - - MRPL18 0 genome.wustl.edu 37 6 160212096 160212096 + Missense_Mutation SNP A A T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 6 160212096 160212096 A T SNP MRPL18 ENST00000367034 human ensembl 69_37n +1 known missense c.177 p.L59F 0.031 NULL pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC ENSG00000112110 104 0 0.00 100 16 13.79 - - - MSH2 0 genome.wustl.edu 37 2 47657032 47657032 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 47657032 47657032 G A SNP MSH2 ENST00000233146 human ensembl 69_37n +1 known missense c.1228 p.G410S 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC ENSG00000095002 174 0 0.00 202 29 12.55 - - - MTFR1 0 genome.wustl.edu 37 8 66619371 66619371 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 8 66619371 66619371 G C SNP MTFR1 ENST00000262146 human ensembl 69_37n +1 known missense c.644 p.R215T 0.971 pfam_Mtfr1 pfam_Mtfr1 - no_errors MTFR1 HGNC ENSG00000066855 94 0 0.00 121 25 17.12 - - - MYBL1 0 genome.wustl.edu 37 8 67484779 67484779 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 8 67484779 67484779 G C SNP MYBL1 ENST00000522677 human ensembl 69_37n -1 known missense c.1666 p.P556A 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 276 0 0.00 593 81 12.02 - - - MYH1 0 genome.wustl.edu 37 17 10405125 10405125 + Missense_Mutation SNP T T A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 10405125 10405125 T A SNP MYH1 ENST00000226207 human ensembl 69_37n -1 known missense c.3215 p.D1072V 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 434 0 0.00 256 86 25.07 - - - MYO5C 0 genome.wustl.edu 37 15 52517715 52517715 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 15 52517715 52517715 G A SNP MYO5C ENST00000261839 human ensembl 69_37n -1 known silent c.3222 p.F1074 0.952 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 737 0 0.00 438 92 17.36 - - - MYO7A 0 genome.wustl.edu 37 11 76918405 76918405 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 76918405 76918405 G C SNP MYO7A ENST00000409709 human ensembl 69_37n +1 known missense c.5814 p.K1938N 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 161 0 0.00 144 25 14.79 - - - MYOM2 0 genome.wustl.edu 37 8 2026951 2026951 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 8 2026951 2026951 C G SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known missense c.1399 p.R467G 0.982 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 100 0 0.00 123 19 13.19 - - - NEK8 0 genome.wustl.edu 37 17 27067531 27067531 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 27067531 27067531 C A SNP NEK8 ENST00000268766 human ensembl 69_37n +1 known missense c.1468 p.P490T 0.963 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 131 1 0.76 92 19 17.12 - - - NFS1 0 genome.wustl.edu 37 20 34278343 34278343 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 20 34278343 34278343 C A SNP NFS1 ENST00000374092 human ensembl 69_37n -1 known missense c.553 p.D185Y 0.967 pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Cysteine_dSase_NifS,tigrfam_Cys_deSase - no_errors NFS1 HGNC ENSG00000244005 285 0 0.00 302 37 10.91 - - - NKX3-1 0 genome.wustl.edu 37 8 23538848 23538848 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 8 23538848 23538848 C G SNP NKX3-1 ENST00000380871 human ensembl 69_37n -1 known missense c.591 p.L197F 0.967 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX3-1 HGNC ENSG00000167034 222 0 0.00 169 27 13.78 - - - NLGN3 0 genome.wustl.edu 37 X 70384048 70384048 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab X 70384048 70384048 G C SNP NLGN3 ENST00000358741 human ensembl 69_37n +1 known missense c.783 p.Q261H 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 282 0 0.00 180 43 19.28 - - - NRXN3 0 genome.wustl.edu 37 14 79175993 79175993 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 79175993 79175993 G T SNP NRXN3 ENST00000554738 human ensembl 69_37n +1 known missense c.1649 p.R550I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 175 0 0.00 42 38 47.50 - - - NWD1 0 genome.wustl.edu 37 19 16874756 16874756 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 16874756 16874756 G C SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known missense c.2251 p.G751R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 98 0 0.00 45 13 22.41 - - - NYNRIN 0 genome.wustl.edu 37 14 24886547 24886547 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 24886547 24886547 G C SNP NYNRIN ENST00000382554 human ensembl 69_37n +1 known missense c.5592 p.W1864C 1.000 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 74 0 0.00 88 17 16.04 - - - OGDH 0 genome.wustl.edu 37 7 44737330 44737330 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 7 44737330 44737330 G T SNP OGDH ENST00000222673 human ensembl 69_37n +1 known missense c.2307 p.W769C 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 305 0 0.00 136 24 15.00 - - - OR13J1 0 genome.wustl.edu 37 9 35869718 35869718 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 35869718 35869718 C T SNP OR13J1 ENST00000377981 human ensembl 69_37n -1 known silent c.681 p.R227 0.999 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR13J1 HGNC ENSG00000168828 123 0 0.00 80 36 31.03 - - - OR2L2 0 genome.wustl.edu 37 1 248201729 248201729 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 248201729 248201729 C A SNP OR2L2 ENST00000366479 human ensembl 69_37n +1 known missense c.160 p.L54I 0.996 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2L2 HGNC ENSG00000203663 743 0 0.00 595 126 17.45 - - - OR4D2 0 genome.wustl.edu 37 17 56247852 56247852 + Frame_Shift_Del DEL C C - TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 56247852 56247852 C - DEL OR4D2 ENST00000545221 human ensembl 69_37n +1 known frame_shift_del c.836 p.M281fs 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 234 0 0.00 167 28 14.21 - - - OR52N2 0 genome.wustl.edu 37 11 5842494 5842494 + Nonsense_Mutation SNP T T G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 5842494 5842494 T G SNP OR52N2 ENST00000317037 human ensembl 69_37n +1 known nonsense c.929 p.L310* 0.166 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52N2 HGNC ENSG00000180988 215 0 0.00 95 18 15.93 - - - OR5AS1 0 genome.wustl.edu 37 11 55798071 55798071 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 55798071 55798071 G C SNP OR5AS1 ENST00000313555 human ensembl 69_37n +1 known missense c.177 p.M59I 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 156 0 0.00 118 21 15.11 - - - OR5L1 0 genome.wustl.edu 37 11 55579684 55579684 + Missense_Mutation SNP A A T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 55579684 55579684 A T SNP OR5L1 ENST00000333973 human ensembl 69_37n +1 known missense c.742 p.I248F 0.003 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5L1 HGNC ENSG00000186117 431 0 0.00 320 40 11.05 - - - OR6S1 0 genome.wustl.edu 37 14 21109448 21109448 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 21109448 21109448 G T SNP OR6S1 ENST00000320704 human ensembl 69_37n -1 known missense c.403 p.P135T 0.976 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6S1 HGNC ENSG00000181803 182 1 0.55 157 63 28.51 - - - OR9G4 0 genome.wustl.edu 37 11 56510423 56510423 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 56510423 56510423 C G SNP OR9G4 ENST00000302957 human ensembl 69_37n -1 known missense c.865 p.A289P 0.463 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 OR9G4 HGNC ENSG00000172457 593 0 0.00 467 87 15.70 - - - PAH 0 genome.wustl.edu 37 12 103234267 103234267 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 103234267 103234267 G T SNP PAH ENST00000553106 human ensembl 69_37n -1 known missense c.1226 p.P409H 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 360 0 0.00 297 66 18.18 - - - PALMD 0 genome.wustl.edu 37 1 100154988 100154988 + Missense_Mutation SNP A A T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 100154988 100154988 A T SNP PALMD ENST00000263174 human ensembl 69_37n +1 known missense c.1172 p.D391V 0.998 NULL pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 107 0 0.00 78 14 15.05 - - - PCDH17 0 genome.wustl.edu 37 13 58240645 58240645 + Missense_Mutation SNP A A C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 13 58240645 58240645 A C SNP PCDH17 ENST00000377918 human ensembl 69_37n +1 known missense c.2609 p.Q870P 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 350 0 0.00 145 114 44.02 - - - PCDH17 0 genome.wustl.edu 37 13 58298937 58298937 + Missense_Mutation SNP A A C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 13 58298937 58298937 A C SNP PCDH17 ENST00000377918 human ensembl 69_37n +1 known missense c.2989 p.T997P 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 282 1 0.35 175 43 19.63 - - - PCDHB3 0 genome.wustl.edu 37 5 140480788 140480788 + Silent SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 140480788 140480788 T C SNP PCDHB3 ENST00000231130 human ensembl 69_37n +1 known silent c.555 p.R185 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 118 0 0.00 120 21 14.79 - - - PCDHGB6 0 genome.wustl.edu 37 5 140789181 140789181 + Missense_Mutation SNP T T G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 140789181 140789181 T G SNP PCDHGB6 ENST00000520790 human ensembl 69_37n +1 known missense c.1412 p.I471S 0.900 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 94 0 0.00 52 9 14.75 - - - PCDHGC4 0 genome.wustl.edu 37 5 140867095 140867096 + In_Frame_Ins INS - - ATG TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 140867095 140867096 - ATG INS PCDHGC4 ENST00000306593 human ensembl 69_37n +1 known in_frame_ins c.2355_2356 p.787in_frame_insM 1.000:1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 166 0 0.00 68 14 17.07 - - - PDE4C 0 genome.wustl.edu 37 19 18322000 18322000 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 18322000 18322000 C T SNP PDE4C ENST00000355502 human ensembl 69_37n -1 known silent c.1878 p.T626 0.080 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 308 1 0.32 194 49 20.08 - - - PDIA4 0 genome.wustl.edu 37 7 148718210 148718210 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 7 148718210 148718210 C T SNP PDIA4 ENST00000286091 human ensembl 69_37n -1 known missense c.118 p.D40N 1.000 pirsf_Protein_diS-isomerase_A4 pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 529 0 0.00 427 74 14.77 - - - PIK3R4 0 genome.wustl.edu 37 3 130463374 130463374 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 3 130463374 130463374 C G SNP PIK3R4 ENST00000356763 human ensembl 69_37n -1 known missense c.689 p.R230T 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 261 0 0.00 193 38 16.45 - - - PITPNM1 0 genome.wustl.edu 37 11 67270037 67270037 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 67270037 67270037 C T SNP PITPNM1 ENST00000356404 human ensembl 69_37n -1 known silent c.231 p.L77 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 166 0 0.00 103 21 16.94 - - - PLEK 0 genome.wustl.edu 37 2 68621250 68621250 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 68621250 68621250 C T SNP PLEK ENST00000234313 human ensembl 69_37n +1 known silent c.858 p.P286 0.820 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK HGNC ENSG00000115956 244 1 0.41 232 39 14.39 - - - PLEKHH2 0 genome.wustl.edu 37 2 43937232 43937232 + Missense_Mutation SNP A A T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 43937232 43937232 A T SNP PLEKHH2 ENST00000282406 human ensembl 69_37n +1 known missense c.2070 p.K690N 1.000 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 338 1 0.29 234 94 28.57 - - - PLTP 0 genome.wustl.edu 37 20 44527701 44527701 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 20 44527701 44527701 C T SNP PLTP ENST00000542937 human ensembl 69_37n -1 known missense c.1421 p.G474E 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 180 0 0.00 136 35 20.35 - - - PPIP5K1 0 genome.wustl.edu 37 15 43873233 43873233 + Missense_Mutation SNP A A T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 15 43873233 43873233 A T SNP PPIP5K1 ENST00000420765 human ensembl 69_37n -1 known missense c.1028 p.M343K 1.000 NULL pfam_His_Pase_superF_clade-2,superfamily_MTCP1 - no_errors PPIP5K1 HGNC ENSG00000168781 53 0 0.00 35 10 22.22 - - - PRDM4 0 genome.wustl.edu 37 12 108133303 108133303 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 108133303 108133303 C G SNP PRDM4 ENST00000228437 human ensembl 69_37n -1 known missense c.1950 p.L650F 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC ENSG00000110851 189 0 0.00 134 25 15.72 - - - PREPL 0 genome.wustl.edu 37 2 44559718 44559718 + Silent SNP T T A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 44559718 44559718 T A SNP PREPL ENST00000260648 human ensembl 69_37n -1 known silent c.1233 p.P411 1.000 pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 537 0 0.00 554 109 16.42 - - - PRKCH 0 genome.wustl.edu 37 14 62014470 62014470 + Missense_Mutation SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 62014470 62014470 A G SNP PRKCH ENST00000332981 human ensembl 69_37n +1 known missense c.1771 p.K591E 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 138 0 0.00 65 11 14.29 - - - PRKD3 0 genome.wustl.edu 37 2 37501724 37501724 + Silent SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 37501724 37501724 A G SNP PRKD3 ENST00000234179 human ensembl 69_37n -1 known silent c.1491 p.V497 0.995 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 319 0 0.00 173 103 37.05 - - - PTPRM 0 genome.wustl.edu 37 18 8076452 8076452 + Splice_Site SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 18 8076452 8076452 G T SNP PTPRM ENST00000400060 human ensembl 69_37n +1 known splice_site c.1442-1 e9-1 1.000 - - - no_errors PTPRM HGNC ENSG00000173482 178 0 0.00 202 29 12.55 - - - RAB3GAP2 0 genome.wustl.edu 37 1 220345979 220345979 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 220345979 220345979 C T SNP RAB3GAP2 ENST00000358951 human ensembl 69_37n -1 known missense c.2416 p.V806M 1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 291 1 0.34 260 74 22.16 - - - RALY 0 genome.wustl.edu 37 20 32663708 32663708 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 20 32663708 32663708 C A SNP RALY ENST00000246194 human ensembl 69_37n +1 known missense c.406 p.P136T 0.994 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 90 0 0.00 65 8 10.96 - - - RYR2 0 genome.wustl.edu 37 1 237693803 237693803 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 237693803 237693803 C A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.2893 p.P965T 0.373 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 356 0 0.00 278 95 25.40 - - - SAMD4A 0 genome.wustl.edu 37 14 55231251 55231251 + Missense_Mutation SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 55231251 55231251 T C SNP SAMD4A ENST00000392067 human ensembl 69_37n +1 known missense c.1589 p.I530T 0.975 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC ENSG00000020577 273 0 0.00 114 84 42.42 - - - SAT2 0 genome.wustl.edu 37 17 7530899 7530899 + Missense_Mutation SNP T T A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 7530899 7530899 T A SNP SAT2 ENST00000269298 human ensembl 69_37n -1 known missense c.55 p.R19W 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors SAT2 HGNC ENSG00000141504 95 0 0.00 53 15 21.74 - - - SDCBP2 0 genome.wustl.edu 37 20 1300251 1300251 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 20 1300251 1300251 G C SNP SDCBP2 ENST00000339987 human ensembl 69_37n -1 known missense c.107 p.A36G 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 101 0 0.00 53 11 17.19 - - - SELL 0 genome.wustl.edu 37 1 169672428 169672428 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 169672428 169672428 C G SNP SELL ENST00000236147 human ensembl 69_37n -1 known missense c.959 p.G320A 0.992 pirsf_L-selectin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_L-selectin,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_EGF-like,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 286 0 0.00 339 101 22.95 - - - SELP 0 genome.wustl.edu 37 1 169581541 169581541 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 169581541 169581541 C T SNP SELP ENST00000263686 human ensembl 69_37n -1 known missense c.875 p.C292Y 0.880 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 310 0 0.00 291 43 12.87 - - - SGCG 0 genome.wustl.edu 37 13 23808841 23808841 + Missense_Mutation SNP A A C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 13 23808841 23808841 A C SNP SGCG ENST00000218867 human ensembl 69_37n +1 known missense c.287 p.H96P 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 157 1 0.63 151 19 11.11 - - - SIDT2 0 genome.wustl.edu 37 11 117054809 117054809 + Silent SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 117054809 117054809 G C SNP SIDT2 ENST00000278951 human ensembl 69_37n +1 known silent c.822 p.G274 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 219 0 0.00 85 94 52.51 - - - SIGLEC10 0 genome.wustl.edu 37 19 51920020 51920020 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 51920020 51920020 G T SNP SIGLEC10 ENST00000339313 human ensembl 69_37n -1 known missense c.606 p.F202L 0.067 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 677 1 0.15 415 190 31.40 - - - SIT1 0 genome.wustl.edu 37 9 35650368 35650368 + Missense_Mutation SNP T T A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 35650368 35650368 T A SNP SIT1 ENST00000259608 human ensembl 69_37n -1 known missense c.281 p.H94L 0.995 NULL NULL - no_errors SIT1 HGNC ENSG00000137078 201 0 0.00 121 62 33.70 - - - SKA2L 0 genome.wustl.edu 37 9 125524220 125524220 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 125524220 125524220 G C SNP SKA2L ENST00000425592 human ensembl 69_37n +1 known missense c.89 p.R30T 1.000 NULL NULL - no_errors SKA2L HGNC ENSG00000232387 406 0 0.00 181 115 38.85 - - - SLC12A7 0 genome.wustl.edu 37 5 1073784 1073784 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 1073784 1073784 G A SNP SLC12A7 ENST00000513223 human ensembl 69_37n -1 putative missense c.277 p.P93S 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon SLC12A7 HGNC ENSG00000113504 50 0 0.00 21 7 25.00 - - - SLC4A11 0 genome.wustl.edu 37 20 3208935 3208935 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 20 3208935 3208935 G A SNP SLC4A11 ENST00000380059 human ensembl 69_37n -1 known missense c.2657 p.P886L 1.000 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 92 0 0.00 63 14 18.18 - - - SLC4A2 0 genome.wustl.edu 37 7 150769218 150769218 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 7 150769218 150769218 G C SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.2530 p.V844L 0.100 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 294 0 0.00 215 33 13.31 - - - SLIT3 0 genome.wustl.edu 37 5 168199824 168199824 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 168199824 168199824 C T SNP SLIT3 ENST00000519560 human ensembl 69_37n -1 known missense c.1421 p.R474H 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_EGF-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 123 0 0.00 59 10 14.29 - - - SP100 0 genome.wustl.edu 37 2 231331031 231331031 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 231331031 231331031 G A SNP SP100 ENST00000340126 human ensembl 69_37n +1 known missense c.1157 p.R386K 0.002 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 78 0 0.00 119 22 15.60 - - - SPAG17 0 genome.wustl.edu 37 1 118550690 118550690 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 118550690 118550690 C A SNP SPAG17 ENST00000336338 human ensembl 69_37n -1 known missense c.4564 p.A1522S 0.998 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 342 0 0.00 280 46 14.11 - - - SPATA1 0 genome.wustl.edu 37 1 85018771 85018772 + RNA INS - - A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 85018771 85018772 - A INS SPATA1 ENST00000460286 human ensembl 69_37n +1 known rna NULL NULL 1.000:1.000 - - - no_errors SPATA1 HGNC ENSG00000122432 18 0 0.00 13 3 18.75 - - - SQRDL 0 genome.wustl.edu 37 15 45951281 45951281 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 15 45951281 45951281 G A SNP SQRDL ENST00000260324 human ensembl 69_37n +1 known missense c.160 p.G54S 0.998 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors SQRDL HGNC ENSG00000137767 214 0 0.00 110 34 23.61 - - - SRGAP1 0 genome.wustl.edu 37 12 64456793 64456793 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 64456793 64456793 G T SNP SRGAP1 ENST00000355086 human ensembl 69_37n +1 known missense c.898 p.D300Y 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 294 1 0.34 258 45 14.85 - - - SRRM2 0 genome.wustl.edu 37 16 2815562 2815562 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 16 2815562 2815562 C G SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known missense c.5033 p.P1678R 0.952 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 167 0 0.00 174 29 14.29 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74639652 74639652 + Silent SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 74639652 74639652 G C SNP ST6GALNAC1 ENST00000156626 human ensembl 69_37n -1 known silent c.69 p.V23 0.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 170 1 0.58 326 42 11.41 - - - STIP1 0 genome.wustl.edu 37 11 63960739 63960739 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 63960739 63960739 C G SNP STIP1 ENST00000305218 human ensembl 69_37n +1 known missense c.199 p.L67V 0.648 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 158 0 0.00 162 31 16.06 - - - SYMPK 0 genome.wustl.edu 37 19 46341763 46341763 + Nonsense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 46341763 46341763 C A SNP SYMPK ENST00000245934 human ensembl 69_37n -1 known nonsense c.1198 p.E400* 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 123 0 0.00 101 23 18.55 - - - TCHP 0 genome.wustl.edu 37 12 110352416 110352416 + Missense_Mutation SNP A A C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 110352416 110352416 A C SNP TCHP ENST00000312777 human ensembl 69_37n +1 known missense c.1304 p.Q435P 0.989 NULL NULL - no_errors TCHP HGNC ENSG00000139437 133 0 0.00 147 27 15.52 - - - TEP1 0 genome.wustl.edu 37 14 20837883 20837883 + Missense_Mutation SNP T T A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 20837883 20837883 T A SNP TEP1 ENST00000262715 human ensembl 69_37n -1 known missense c.7373 p.E2458V 0.988 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 392 0 0.00 382 76 16.59 - - - TEX15 0 genome.wustl.edu 37 8 30705392 30705392 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 8 30705392 30705392 G T SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.1142 p.A381D 0.125 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 492 2 0.40 424 112 20.90 - - - TG 0 genome.wustl.edu 37 8 134034236 134034236 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 8 134034236 134034236 G A SNP TG ENST00000220616 human ensembl 69_37n +1 known missense c.6877 p.A2293T 0.957 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 240 0 0.00 313 45 12.53 - - - TGFBI 0 genome.wustl.edu 37 5 135388753 135388753 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 135388753 135388753 C G SNP TGFBI ENST00000305126 human ensembl 69_37n +1 known missense c.1071 p.I357M 0.166 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 152 0 0.00 109 22 16.67 - - - TLE3 0 genome.wustl.edu 37 15 70346800 70346800 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 15 70346800 70346800 G C SNP TLE3 ENST00000558939 human ensembl 69_37n -1 known missense c.1812 p.D604E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 154 0 0.00 87 21 19.44 - - - TLR4 0 genome.wustl.edu 37 9 120475509 120475509 + Nonsense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 120475509 120475509 C A SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known nonsense c.1103 p.S368* 0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 126 0 0.00 117 15 11.36 - - - TLR4 0 genome.wustl.edu 37 9 120476776 120476776 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 120476776 120476776 C A SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.2370 p.S790R 0.614 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 133 0 0.00 83 21 20.19 - - - TM9SF1 0 genome.wustl.edu 37 14 24658635 24658635 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 14 24658635 24658635 G C SNP TM9SF1 ENST00000556387 human ensembl 69_37n -1 known missense c.2434 p.L812V 1.000 NULL pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 89 0 0.00 125 25 16.67 - - - TMEM131 0 genome.wustl.edu 37 2 98409038 98409038 + Nonsense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 98409038 98409038 C A SNP TMEM131 ENST00000186436 human ensembl 69_37n -1 known nonsense c.3955 p.E1319* 0.036 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 215 0 0.00 156 26 14.29 - - - TMEM201 0 genome.wustl.edu 37 1 9656053 9656053 + Nonsense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 9656053 9656053 C G SNP TMEM201 ENST00000340381 human ensembl 69_37n +1 known nonsense c.219 p.Y73* 1.000 pfam_DUF2349 pfam_DUF2448,pfam_DUF2349 - no_errors TMEM201 HGNC ENSG00000188807 153 0 0.00 66 20 23.26 - - - TMEM246 0 genome.wustl.edu 37 9 104238305 104238305 + Missense_Mutation SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 9 104238305 104238305 T C SNP TMEM246 ENST00000374847 human ensembl 69_37n -1 known missense c.1070 p.H357R 0.919 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 199 1 0.50 177 30 14.29 - - - TOM1L2 0 genome.wustl.edu 37 17 17786172 17786172 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 17786172 17786172 G A SNP TOM1L2 ENST00000379504 human ensembl 69_37n -1 known silent c.507 p.V169 1.000 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC ENSG00000175662 210 0 0.00 134 33 19.64 - - - TPP1 0 genome.wustl.edu 37 11 6638925 6638925 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 6638925 6638925 C A SNP TPP1 ENST00000299427 human ensembl 69_37n -1 known missense c.312 p.L104F 0.258 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 474 1 0.21 171 110 39.15 - - - TRIM2 0 genome.wustl.edu 37 4 154243810 154243810 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 4 154243810 154243810 G T SNP TRIM2 ENST00000338700 human ensembl 69_37n +1 known missense c.1793 p.G598V 1.000 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 147 0 0.00 111 37 24.83 - - - TRIM64DP 0 genome.wustl.edu 37 11 89515423 89515423 + RNA SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 89515423 89515423 C G SNP TRIM64DP ENST00000532821 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors TRIM64DP HGNC ENSG00000254751 291 0 0.00 162 23 12.37 - - - TRIM67 0 genome.wustl.edu 37 1 231334915 231334915 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 231334915 231334915 G A SNP TRIM67 ENST00000366652 human ensembl 69_37n +1 known silent c.1263 p.K421 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 222 0 0.00 227 28 10.98 - - - TTC28 0 genome.wustl.edu 37 22 28497221 28497221 + Frame_Shift_Del DEL T T - TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 22 28497221 28497221 T - DEL TTC28 ENST00000397906 human ensembl 69_37n -1 novel frame_shift_del c.3355 p.I1119fs 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 266 0 0.00 167 36 17.56 - - - TTN 0 genome.wustl.edu 37 2 179645892 179645892 + Missense_Mutation SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 2 179645892 179645892 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.3479 p.N1160S 1.000 pfam_Ig_I-set,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 658 0 0.00 385 71 15.54 - - - UBR2 0 genome.wustl.edu 37 6 42652568 42652568 + Silent SNP A A G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 6 42652568 42652568 A G SNP UBR2 ENST00000372899 human ensembl 69_37n +1 known silent c.4812 p.P1604 0.186 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 129 0 0.00 143 74 33.94 - - - UCK2 0 genome.wustl.edu 37 1 165865490 165865490 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 165865490 165865490 C T SNP UCK2 ENST00000367879 human ensembl 69_37n +1 known silent c.420 p.F140 1.000 pfam_PRK/URK,pfam_Depp_CoAkinase,prints_PRK,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 241 0 0.00 232 36 13.38 - - - UTP20 0 genome.wustl.edu 37 12 101699822 101699822 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 101699822 101699822 C T SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known silent c.1911 p.N637 0.997 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 365 0 0.00 310 46 12.89 - - - WDFY3 0 genome.wustl.edu 37 4 85672736 85672736 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 4 85672736 85672736 G A SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known missense c.5873 p.A1958V 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 316 0 0.00 201 52 20.55 - - - WDR46 0 genome.wustl.edu 37 6 33248475 33248475 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 6 33248475 33248475 C G SNP WDR46 ENST00000374617 human ensembl 69_37n -1 known missense c.1405 p.G469R 1.000 pfam_BING4_C_dom,superfamily_WD40_repeat_dom pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR46 HGNC ENSG00000227057 148 0 0.00 119 26 17.45 - - - WNT3A 0 genome.wustl.edu 37 1 228246812 228246812 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 228246812 228246812 C T SNP WNT3A ENST00000366753 human ensembl 69_37n +1 known silent c.705 p.Y235 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 131 0 0.00 86 39 31.20 - - - XPNPEP1 0 genome.wustl.edu 37 10 111646073 111646073 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 111646073 111646073 C T SNP XPNPEP1 ENST00000502935 human ensembl 69_37n -1 known missense c.679 p.D227N 1.000 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 286 0 0.00 262 49 15.76 - - - YME1L1 0 genome.wustl.edu 37 10 27434428 27434428 + Missense_Mutation SNP T T G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 27434428 27434428 T G SNP YME1L1 ENST00000326799 human ensembl 69_37n -1 known missense c.431 p.K144T 0.994 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 207 0 0.00 160 54 25.23 - - - ZC3H10 0 genome.wustl.edu 37 12 56515095 56515095 + Missense_Mutation SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 12 56515095 56515095 G T SNP ZC3H10 ENST00000257940 human ensembl 69_37n +1 known missense c.749 p.R250L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 99 0 0.00 73 19 20.65 - - - ZC3H11A 0 genome.wustl.edu 37 1 203821334 203821334 + Missense_Mutation SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 203821334 203821334 C T SNP ZC3H11A ENST00000332127 human ensembl 69_37n +1 known missense c.2240 p.S747L 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 174 1 0.57 142 64 30.77 - - - ZC3H12C 0 genome.wustl.edu 37 11 110034079 110034079 + Missense_Mutation SNP A A C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 11 110034079 110034079 A C SNP ZC3H12C ENST00000278590 human ensembl 69_37n +1 known missense c.1230 p.E410D 0.997 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 169 0 0.00 113 40 26.14 - - - ZCCHC10 0 genome.wustl.edu 37 5 132335893 132335893 + Silent SNP C C T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 5 132335893 132335893 C T SNP ZCCHC10 ENST00000513541 human ensembl 69_37n -1 putative silent c.270 p.R90 0.529 NULL superfamily_Znf_CCHC - no_errors ZCCHC10 HGNC ENSG00000155329 433 0 0.00 329 66 16.71 - - - ZDHHC1 0 genome.wustl.edu 37 16 67428930 67428930 + Missense_Mutation SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 16 67428930 67428930 C G SNP ZDHHC1 ENST00000348579 human ensembl 69_37n -1 known missense c.1205 p.R402P 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC1 HGNC ENSG00000159714 45 0 0.00 24 9 27.27 - - - ZMYM6 0 genome.wustl.edu 37 1 35453751 35453751 + Missense_Mutation SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 1 35453751 35453751 G C SNP ZMYM6 ENST00000357182 human ensembl 69_37n -1 known missense c.2932 p.L978V 0.997 superfamily_RNaseH-like_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH - no_errors ZMYM6 HGNC ENSG00000163867 35 0 0.00 29 10 25.64 - - - ZNF350 0 genome.wustl.edu 37 19 52472379 52472379 + Silent SNP G G C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 52472379 52472379 G C SNP ZNF350 ENST00000243644 human ensembl 69_37n -1 known silent c.21 p.S7 0.000 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF350 HGNC ENSG00000256683 465 0 0.00 174 114 39.45 - - - ZNF419 0 genome.wustl.edu 37 19 58005131 58005131 + Silent SNP T T C TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 58005131 58005131 T C SNP ZNF419 ENST00000424930 human ensembl 69_37n +1 known silent c.1209 p.N403 0.009 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 ZNF419 HGNC ENSG00000105136 290 0 0.00 220 48 17.91 - - - ZNF423 0 genome.wustl.edu 37 16 49669760 49669760 + Silent SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 16 49669760 49669760 G A SNP ZNF423 ENST00000262383 human ensembl 69_37n -1 known silent c.3303 p.N1101 0.192 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 32 0 0.00 13 7 35.00 - - - ZNF438 0 genome.wustl.edu 37 10 31137957 31137957 + Missense_Mutation SNP C C A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 10 31137957 31137957 C A SNP ZNF438 ENST00000361310 human ensembl 69_37n -1 known missense c.1377 p.Q459H 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 141 0 0.00 68 26 27.66 - - - ZNF552 0 genome.wustl.edu 37 19 58319602 58319602 + Nonsense_Mutation SNP T T A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 58319602 58319602 T A SNP ZNF552 ENST00000391701 human ensembl 69_37n -1 known nonsense c.1030 p.R344* 0.995 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 ZNF552 HGNC ENSG00000178935 470 0 0.00 227 44 16.24 - - - ZNF552 0 genome.wustl.edu 37 19 58319607 58319608 + Frame_Shift_Ins INS - - GA TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 58319607 58319608 - GA INS ZNF552 ENST00000391701 human ensembl 69_37n -1 known frame_shift_ins c.1025_1024 p.H342fs 0.647:0.658 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 ZNF552 HGNC ENSG00000178935 476 0 0.00 236 38 13.87 - - - ZNF587 0 genome.wustl.edu 37 19 58352673 58352673 + Missense_Mutation SNP G G A TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 58352673 58352673 G A SNP ZNF587 ENST00000442832 human ensembl 69_37n +1 known missense c.631 p.G211R 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587 HGNC ENSG00000198466 388 0 0.00 166 39 18.93 - - - ZNF676 0 genome.wustl.edu 37 19 22362986 22362986 + Silent SNP G G T TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 22362986 22362986 G T SNP ZNF676 ENST00000397121 human ensembl 69_37n -1 known silent c.1533 p.G511 0.970 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 127 0 0.00 61 26 29.55 - - - ZSCAN5B 0 genome.wustl.edu 37 19 56704353 56704353 + Silent SNP T T G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 19 56704353 56704353 T G SNP ZSCAN5B ENST00000358992 human ensembl 69_37n -1 known silent c.69 p.P23 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 204 0 0.00 156 31 16.58 - - - ZZEF1 0 genome.wustl.edu 37 17 3980054 3980054 + Splice_Site SNP C C G TCGA-BH-A0BZ-01A-31D-A12Q-09 TCGA-BH-A0BZ-11A-61D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f07765a-3f2b-4b6f-88ef-0d7aab17a758 be00304b-7a7a-464c-b5f7-d784d0c2c0ab 17 3980054 3980054 C G SNP ZZEF1 ENST00000381638 human ensembl 69_37n -1 known splice_site c.3112-1 e21-1 1.000 - - - no_errors ZZEF1 HGNC ENSG00000074755 202 0 0.00 107 42 28.00 - - -