Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCB4 0 genome.wustl.edu 37 7 87092124 87092124 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 87092124 87092124 C T SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.236 p.G79E 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 - - 32 0 0.00 41 19 31.67 ABCC5 0 genome.wustl.edu 37 3 183665256 183665257 + Frame_Shift_Ins INS - - A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 183665256 183665257 - A INS ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_ins c.3270_3269 p.L1090fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 tier1 29 0 0.00 17 4 19.05 ACE2 0 genome.wustl.edu 37 X 15603632 15603632 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe X 15603632 15603632 G T SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.866 p.P289Q 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 tier1 - - 64 0 0.00 57 4 6.45 ACOT13 0 genome.wustl.edu 37 6 24687916 24687916 + Nonsense_Mutation SNP A A T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 24687916 24687916 A T SNP ACOT13 ENST00000537591 human ensembl 74_37 +1 known nonsense c.7 p.R3* 0.761 NULL pfam_Thioestr_supf,tigrfam_PAAI_dom - no_errors ACOT13 HGNC ENSG00000112304 36 0 0.00 22 3 12.00 ACTN2 0 genome.wustl.edu 37 1 236849947 236849947 + RNA SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 236849947 236849947 C T SNP ACTN2 ENST00000492634 human ensembl 74_37 +1 known rna NULL NULL 0.039 - - - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 44 0 0.00 29 47 61.84 ADAMTS18 0 genome.wustl.edu 37 16 77389970 77389970 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 77389970 77389970 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.1327 p.G443S 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 60 0 0.00 23 20 45.45 ADAMTS19 0 genome.wustl.edu 37 5 129015552 129015552 + Silent SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 129015552 129015552 A C SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known silent c.2584 p.R862 0.998 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 64 0 0.00 19 19 50.00 ALDH1L1 0 genome.wustl.edu 37 3 125872176 125872177 + Frame_Shift_Ins INS - - T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 125872176 125872177 - T INS ALDH1L1 ENST00000455064 human ensembl 74_37 -1 known frame_shift_ins c.444_443 p.N148fs 0.000:0.000 NULL pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,superfamily_Formyl_transf_N - no_errors ALDH1L1 HGNC ENSG00000144908 tier1 27 0 0.00 24 11 31.43 ANKRD44 0 genome.wustl.edu 37 2 197855575 197855575 + RNA SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 197855575 197855575 C T SNP ANKRD44 ENST00000493808 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ANKRD44 HGNC ENSG00000065413 tier1 - - 31 0 0.00 41 4 8.89 ANPEP 0 genome.wustl.edu 37 15 90346713 90346713 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 90346713 90346713 G T SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.1463 p.S488Y 0.934 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 97 0 0.00 76 4 5.00 APC 0 genome.wustl.edu 37 5 112177178 112177178 + Frame_Shift_Del DEL T T - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 112177178 112177178 T - DEL APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_del c.5887 p.S1964fs 1.000 pfam_APC_Cys-rich_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 48 0 0.00 34 2 5.56 APEH 0 genome.wustl.edu 37 3 49717029 49717029 + Missense_Mutation SNP C C G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 49717029 49717029 C G SNP APEH ENST00000296456 human ensembl 74_37 +1 known missense c.1162 p.L388V 1.000 NULL pfam_Peptidase_S9,pfam_AB_hydrolase_1,pfam_Dienelactn_hydro - no_errors APEH HGNC ENSG00000164062 tier1 - - 27 0 0.00 20 7 25.93 APOB 0 genome.wustl.edu 37 2 21230107 21230108 + Frame_Shift_Ins INS - - T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 21230107 21230108 - T INS APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_ins c.9633_9632 p.N3211fs 0.997:0.991 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 tier1 63 0 0.00 48 16 25.00 AQP2 0 genome.wustl.edu 37 12 50348089 50348089 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 50348089 50348089 G A SNP AQP2 ENST00000199280 human ensembl 74_37 +1 known missense c.512 p.G171D 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ENSG00000167580 tier1 - - 73 0 0.00 69 4 5.48 ARHGEF10 0 genome.wustl.edu 37 8 1905070 1905070 + Nonsense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 1905070 1905070 G T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known nonsense c.3751 p.G1251* 0.323 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 tier1 - - 40 0 0.00 27 4 12.90 ARHGEF2 0 genome.wustl.edu 37 1 155921991 155921991 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 155921991 155921991 C T SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.2023 p.V675M 0.002 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 28 0 0.00 29 3 9.38 ARIH2 0 genome.wustl.edu 37 3 49008111 49008111 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 49008111 49008111 G A SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known silent c.744 p.Q248 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 tier1 - - 22 0 0.00 25 6 19.35 ARSF 0 genome.wustl.edu 37 X 3021930 3021930 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe X 3021930 3021930 C T SNP ARSF ENST00000359361 human ensembl 74_37 +1 known silent c.1230 p.V410 0.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 tier1 rs201866054 - 35 0 0.00 9 29 76.32 ATAD2B 0 genome.wustl.edu 37 2 24092543 24092543 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 24092543 24092543 C T SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.1066 p.A356T 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 tier1 - - 93 0 0.00 32 29 47.54 ATP10D 0 genome.wustl.edu 37 4 47514680 47514680 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 4 47514680 47514680 T C SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known silent c.123 p.S41 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 tier1 - - 52 0 0.00 19 19 50.00 ATP2A2 0 genome.wustl.edu 37 12 110784258 110784258 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 110784258 110784258 G T SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.3112 p.D1038Y 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A2 HGNC ENSG00000174437 tier1 - - 30 0 0.00 30 5 14.29 ATP5S 0 genome.wustl.edu 37 14 50790662 50790662 + Splice_Site SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 50790662 50790662 G T SNP ATP5S ENST00000311459 human ensembl 74_37 +1 known splice_site c.362-1 e4-1 1.000 - - - no_errors ATP5S HGNC ENSG00000125375 42 0 0.00 23 2 8.00 AUP1 0 genome.wustl.edu 37 2 74755953 74755953 + Missense_Mutation SNP C C G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 74755953 74755953 C G SNP AUP1 ENST00000377526 human ensembl 74_37 -1 known missense c.449 p.R150T 1.000 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 tier1 - - 52 0 0.00 54 25 31.65 BAGE2 0 genome.wustl.edu 37 21 11038758 11038758 + RNA SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 21 11038758 11038758 T G SNP BAGE2 ENST00000470054 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BAGE2 HGNC ENSG00000187172 tier1 - - 226 0 0.00 132 20 13.16 BAZ1B 0 genome.wustl.edu 37 7 72873923 72873923 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 72873923 72873923 T C SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known silent c.3375 p.E1125 1.000 superfamily_ARM-type_fold pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 49 0 0.00 27 2 6.90 BAZ2A 0 genome.wustl.edu 37 12 57007891 57007891 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 57007891 57007891 G T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known silent c.768 p.V256 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 35 0 0.00 70 4 5.41 BPTF 0 genome.wustl.edu 37 17 65822444 65822444 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 65822444 65822444 A G SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.604 p.S202G 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 42 0 0.00 46 5 9.80 C15orf56 0 genome.wustl.edu 37 15 40544554 40544554 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 40544554 40544554 G T SNP C15orf56 ENST00000319503 human ensembl 74_37 -1 known silent c.418 p.R140 0.000 NULL NULL - no_errors C15orf56 HGNC ENSG00000176753 tier1 - - 14 0 0.00 7 9 56.25 C1orf56 0 genome.wustl.edu 37 1 151020718 151020718 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 151020718 151020718 C T SNP C1orf56 ENST00000368926 human ensembl 74_37 +1 known missense c.395 p.A132V 0.000 NULL superfamily_Thrombospondin_1_rpt - no_errors C1orf56 HGNC ENSG00000143443 tier1 - - 42 0 0.00 57 4 6.56 C20orf196 0 genome.wustl.edu 37 20 5753675 5753675 + Missense_Mutation SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 20 5753675 5753675 C A SNP C20orf196 ENST00000303142 human ensembl 74_37 +1 known missense c.164 p.S55Y 0.999 NULL NULL - no_errors C20orf196 HGNC ENSG00000171984 44 0 0.00 38 2 5.00 C2CD2 0 genome.wustl.edu 37 21 43327127 43327127 + Missense_Mutation SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 21 43327127 43327127 A C SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known missense c.1292 p.V431G 0.000 NULL pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 tier1 - - 42 0 0.00 13 14 51.85 C3orf27 0 genome.wustl.edu 37 3 128292319 128292320 + Frame_Shift_Del DEL TC TC - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 128292319 128292320 TC - DEL C3orf27 ENST00000356020 human ensembl 74_37 -1 known frame_shift_del c.254_253 p.D85fs 0.075:0.076 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 tier1 48 0 0.00 39 3 7.14 C5orf49 0 genome.wustl.edu 37 5 7835549 7835549 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 7835549 7835549 C T SNP C5orf49 ENST00000399810 human ensembl 74_37 -1 known silent c.210 p.L70 0.989 NULL NULL - no_errors C5orf49 HGNC ENSG00000215217 38 0 0.00 28 2 6.67 C6orf165 0 genome.wustl.edu 37 6 88120319 88120319 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 88120319 88120319 T G SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.125 p.L42R 0.996 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 tier1 - - 69 0 0.00 27 37 56.92 C9orf116 0 genome.wustl.edu 37 9 138387449 138387449 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 138387449 138387449 G T SNP C9orf116 ENST00000429260 human ensembl 74_37 -1 known missense c.235 p.P79T 0.015 NULL NULL - no_errors C9orf116 HGNC ENSG00000160345 57 0 0.00 45 4 8.16 CAMK1 0 genome.wustl.edu 37 3 9803338 9803338 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 9803338 9803338 G T SNP CAMK1 ENST00000256460 human ensembl 74_37 -1 known missense c.533 p.A178D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1 HGNC ENSG00000134072 70 0 0.00 44 5 10.20 CBLB 0 genome.wustl.edu 37 3 105459455 105459455 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 105459455 105459455 C T SNP CBLB ENST00000264122 human ensembl 74_37 -1 known missense c.866 p.C289Y 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 tier1 - - 55 0 0.00 64 4 5.88 CCNK 0 genome.wustl.edu 37 14 99976510 99976510 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 99976510 99976510 C T SNP CCNK ENST00000389879 human ensembl 74_37 +1 known silent c.1134 p.L378 0.003 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNK HGNC ENSG00000090061 tier1 - - 102 0 0.00 81 34 29.57 CCR1 0 genome.wustl.edu 37 3 46245372 46245372 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 46245372 46245372 G A SNP CCR1 ENST00000296140 human ensembl 74_37 -1 known missense c.433 p.R145W 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt - no_errors CCR1 HGNC ENSG00000163823 tier1 - - 36 0 0.00 26 15 36.59 CCSER2 0 genome.wustl.edu 37 10 86132008 86132008 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 86132008 86132008 G A SNP CCSER2 ENST00000372088 human ensembl 74_37 +1 known silent c.1200 p.S400 0.519 NULL NULL - no_errors CCSER2 HGNC ENSG00000107771 tier1 - - 44 0 0.00 11 16 59.26 CDC27 0 genome.wustl.edu 37 17 45216210 45216210 + Silent SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 45216210 45216210 A C SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known silent c.1617 p.V539 0.877 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 36 0 0.00 55 3 5.17 CEP55 0 genome.wustl.edu 37 10 95287726 95287726 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 95287726 95287726 C T SNP CEP55 ENST00000371485 human ensembl 74_37 +1 known missense c.1211 p.A404V 0.068 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 tier1 - - 51 0 0.00 60 4 6.25 CHRNE 0 genome.wustl.edu 37 17 4805918 4805918 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 4805918 4805918 G T SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.187 p.L63M 0.874 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 tier1 - - 67 0 0.00 61 4 6.15 CLASP1 0 genome.wustl.edu 37 2 122206680 122206680 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 122206680 122206680 G A SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.1540 p.H514Y 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 tier1 - - 39 0 0.00 60 5 7.69 CLCN7 0 genome.wustl.edu 37 16 1498731 1498731 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 1498731 1498731 G A SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.1834 p.P612S 1.000 superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 tier1 - - 110 0 0.00 73 4 5.19 CNTN6 0 genome.wustl.edu 37 3 1262380 1262380 + Frame_Shift_Del DEL T T - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 1262380 1262380 T - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.65 p.L23fs 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 103 0 0.00 29 36 55.38 COL11A1 0 genome.wustl.edu 37 1 103496728 103496728 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 103496728 103496728 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.724 p.D242N 1.000 superfamily_ConA-like_lec_gl_sf pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 17 0 0.00 10 3 23.08 COL4A5 0 genome.wustl.edu 37 X 107923920 107923920 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe X 107923920 107923920 C T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known silent c.3954 p.G1318 0.511 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 22 0 0.00 72 4 5.26 CPNE4 0 genome.wustl.edu 37 3 131254166 131254166 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 131254166 131254166 G T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.1601 p.P534Q 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 44 0 0.00 35 2 5.41 CRIM1 0 genome.wustl.edu 37 2 36774143 36774143 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 36774143 36774143 G T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.2763 p.Q921H 1.000 NULL pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 tier1 - - 42 0 0.00 41 4 8.89 CRIP3 0 genome.wustl.edu 37 6 43273755 43273755 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 43273755 43273755 T C SNP CRIP3 ENST00000274990 human ensembl 74_37 -1 known silent c.603 p.V201 0.039 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CRIP3 HGNC ENSG00000146215 tier1 - - 24 0 0.00 3 12 80.00 CTNNB1 0 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 41266113 41266113 C T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.110 p.S37F 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 rs121913403 - 58 0 0.00 56 8 12.50 CUL9 0 genome.wustl.edu 37 6 43172752 43172752 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 43172752 43172752 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.4531 p.A1511T 0.998 pfam_Cullin_N pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 29 0 0.00 8 22 73.33 DHX9 0 genome.wustl.edu 37 1 182828173 182828173 + Splice_Site SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 182828173 182828173 A G SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known splice_site c.1063-2 e10-2 1.000 - - - no_errors DHX9 HGNC ENSG00000135829 tier1 - - 47 0 0.00 52 4 7.14 DLG5 0 genome.wustl.edu 37 10 79595550 79595550 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 79595550 79595550 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.1568 p.R523Q 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 tier1 - - 40 0 0.00 28 10 26.32 DLG5 0 genome.wustl.edu 37 10 79576821 79576821 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 79576821 79576821 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.3818 p.R1273H 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 37 0 0.00 30 3 9.09 DMXL2 0 genome.wustl.edu 37 15 51828604 51828604 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 51828604 51828604 T C SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known silent c.2073 p.R691 0.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 34 0 0.00 36 11 23.40 DMXL2 0 genome.wustl.edu 37 15 51742397 51742397 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 51742397 51742397 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.8833 p.A2945T 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 60 0 0.00 50 3 5.66 DNAH14 0 genome.wustl.edu 37 1 225211320 225211320 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 225211320 225211320 G T SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.1111 p.A371S 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 38 0 0.00 45 3 6.25 DNAH7 0 genome.wustl.edu 37 2 196788460 196788460 + Missense_Mutation SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 196788460 196788460 C A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.3684 p.L1228F 0.985 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 22 0 0.00 28 11 28.21 DNAH9 0 genome.wustl.edu 37 17 11713657 11713657 + Frame_Shift_Del DEL T T - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 11713657 11713657 T - DEL DNAH9 ENST00000262442 human ensembl 74_37 +1 known frame_shift_del c.8678 p.V2894fs 0.999 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 55 0 0.00 16 2 11.11 DNMBP 0 genome.wustl.edu 37 10 101654708 101654708 + Missense_Mutation SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 101654708 101654708 T C SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.3223 p.I1075V 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 tier1 - - 43 0 0.00 32 7 17.95 DOCK1 0 genome.wustl.edu 37 10 128830467 128830467 + Nonsense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 128830467 128830467 G T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known nonsense c.1732 p.E578* 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 22 0 0.00 19 5 20.83 DOCK5 0 genome.wustl.edu 37 8 25220658 25220658 + Splice_Site SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 25220658 25220658 G A SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known splice_site c.3044+1 e29+1 1.000 - - - no_errors DOCK5 HGNC ENSG00000147459 35 0 0.00 40 4 9.09 DRP2 0 genome.wustl.edu 37 X 100503183 100503183 + Missense_Mutation SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe X 100503183 100503183 C A SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.1358 p.A453D 1.000 pfam_EF-hand_dom_typ1,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 tier1 - - 28 0 0.00 3 42 93.33 DSCR10 0 genome.wustl.edu 37 21 39580612 39580612 + RNA SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 21 39580612 39580612 C T SNP DSCR10 ENST00000432141 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DSCR10 HGNC ENSG00000233316 tier1 - - 29 0 0.00 23 10 30.30 DSEL 0 genome.wustl.edu 37 18 65181739 65181739 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 18 65181739 65181739 G T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.137 p.T46K 0.994 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 28 0 0.00 21 2 8.70 DSG2 0 genome.wustl.edu 37 18 29125877 29125877 + Frame_Shift_Del DEL A A - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 18 29125877 29125877 A - DEL DSG2 ENST00000261590 human ensembl 74_37 +1 known frame_shift_del c.2528 p.I845fs 0.333 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 tier1 47 0 0.00 17 3 15.00 DUSP9 0 genome.wustl.edu 37 X 152914771 152914771 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe X 152914771 152914771 T G SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known missense c.458 p.V153G 0.055 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 tier1 - - 17 0 0.00 5 28 82.35 DYNC1H1 0 genome.wustl.edu 37 14 102500661 102500661 + Splice_Site SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 102500661 102500661 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known splice_site c.10627-1 e56-1 1.000 - - - no_errors DYNC1H1 HGNC ENSG00000197102 40 0 0.00 32 2 5.71 DYNC2H1 0 genome.wustl.edu 37 11 103044888 103044888 + Missense_Mutation SNP C C G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 103044888 103044888 C G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.5663 p.T1888S 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 58 0 0.00 16 17 51.52 E2F4 0 genome.wustl.edu 37 16 67229794 67229796 + In_Frame_Del DEL CAG CAG - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 67229794 67229796 CAG - DEL E2F4 ENST00000379378 human ensembl 74_37 +1 known in_frame_del c.918_920 p.S310in_frame_del 0.995:0.995:0.995 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 tier1 56 0 0.00 62 7 10.14 EFCAB6 0 genome.wustl.edu 37 22 44031041 44031041 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 22 44031041 44031041 G T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.2039 p.T680N 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 tier1 - - 56 0 0.00 56 11 16.42 EFCAB6 0 genome.wustl.edu 37 22 44112835 44112835 + Nonsense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 22 44112835 44112835 G A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known nonsense c.775 p.Q259* 0.047 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 tier1 - - 95 0 0.00 66 18 21.43 EID2B 0 genome.wustl.edu 37 19 40023426 40023426 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 40023426 40023426 C T SNP EID2B ENST00000326282 human ensembl 74_37 -1 known missense c.17 p.G6E 0.000 NULL NULL - no_errors EID2B HGNC ENSG00000176401 tier1 - - 26 0 0.00 19 15 44.12 EIF1 0 genome.wustl.edu 37 17 39845268 39845268 + RNA SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 39845268 39845268 C A SNP EIF1 ENST00000310837 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EIF1 HGNC ENSG00000173812 tier1 - - 69 0 0.00 99 6 5.71 EIF4G3 0 genome.wustl.edu 37 1 21205816 21205816 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 21205816 21205816 C T SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known silent c.2472 p.T824 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 34 0 0.00 38 2 5.00 EMR1 0 genome.wustl.edu 37 19 6916316 6916316 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 6916316 6916316 T G SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.1357 p.L453V 0.004 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 tier1 rs146387629 - 66 0 0.00 19 20 51.28 ENPEP 0 genome.wustl.edu 37 4 111431406 111431406 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 4 111431406 111431406 T C SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known silent c.1200 p.F400 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 tier1 - - 103 0 0.00 53 4 7.02 ENSG00000189275 0 genome.wustl.edu 37 10 133608246 133608246 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 133608246 133608246 C T SNP ENSG00000189275 ENST00000341866 human ensembl 74_37 -1 known missense c.130 p.A44T 0.000 NULL NULL - no_errors AL450307.1 Clone_based_ensembl_gene ENSG00000189275 tier1 - - 71 0 0.00 57 21 26.92 ENSG00000215642 0 genome.wustl.edu 37 GL000192.1 208176 208176 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe GL000192.1 208176 208176 G A SNP ENSG00000215642 ENST00000545452 human ensembl 74_37 -1 novel missense c.511 p.L171F NULL NULL superfamily_P-loop_NTPase - no_errors AL360154.1 Clone_based_ensembl_gene ENSG00000215642 tier1 - - 52 0 0.00 26 19 42.22 ENSG00000235994 0 genome.wustl.edu 37 6 168376823 168376823 + RNA SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 168376823 168376823 C T SNP ENSG00000235994 ENST00000538528 human ensembl 74_37 -1 known rna NULL NULL 0.982 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 tier1 - - 92 0 0.00 66 8 10.81 ENSG00000243944 0 genome.wustl.edu 37 3 149868552 149868552 + RNA SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 149868552 149868552 A C SNP ENSG00000243944 ENST00000472821 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors RP11-167H9.4 Clone_based_vega_gene ENSG00000243944 tier1 - - 9 0 0.00 8 4 33.33 ENSG00000254420 0 genome.wustl.edu 37 11 78154810 78154811 + RNA INS - - A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 78154810 78154811 - A INS ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.247:0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 24 0 0.00 17 2 10.53 ENSG00000259966 0 genome.wustl.edu 37 16 32618959 32618959 + RNA SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 32618959 32618959 G T SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 60 0 0.00 46 12 20.69 ENSG00000265803 0 genome.wustl.edu 37 6 158596078 158596078 + RNA SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 158596078 158596078 A G SNP ENSG00000265803 ENST00000580588 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL590703.1 Clone_based_ensembl_gene ENSG00000265803 tier1 - - 10 0 0.00 11 5 31.25 ENSG00000272635 0 genome.wustl.edu 37 19 28410718 28410718 + RNA SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 28410718 28410718 A G SNP ENSG00000272635 ENST00000592806 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors LLNLF-65H9.1 Clone_based_vega_gene ENSG00000272635 tier1 - - 9 0 0.00 16 9 36.00 ERBB2 0 genome.wustl.edu 37 17 37881323 37881323 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 37881323 37881323 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2515 p.V839M 0.993 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 tier1 - - 34 0 0.00 12 13 52.00 ERGIC3 0 genome.wustl.edu 37 20 34135193 34135193 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 20 34135193 34135193 A G SNP ERGIC3 ENST00000447986 human ensembl 74_37 +1 known missense c.398 p.D133G 1.000 NULL pfam_Erv_C - no_errors ERGIC3 HGNC ENSG00000125991 36 0 0.00 56 4 6.56 ESPL1 0 genome.wustl.edu 37 12 53670934 53670934 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 53670934 53670934 A G SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.2008 p.R670G 0.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 21 0 0.00 16 10 38.46 ETV4 0 genome.wustl.edu 37 17 41622935 41622935 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 41622935 41622935 G T SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known silent c.51 p.T17 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 tier1 - - 72 0 0.00 78 15 16.13 EVPL 0 genome.wustl.edu 37 17 74004925 74004925 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 74004925 74004925 G T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.4361 p.P1454H 0.164 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 62 0 0.00 63 4 5.97 EXTL3 0 genome.wustl.edu 37 8 28575272 28575272 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 28575272 28575272 A G SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.1696 p.N566D 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 tier1 - - 53 0 0.00 40 4 9.09 FAR2 0 genome.wustl.edu 37 12 29464815 29464815 + Splice_Site SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 29464815 29464815 G A SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known splice_site c.888-1 e7-1 1.000 - - - no_errors FAR2 HGNC ENSG00000064763 tier1 - - 48 0 0.00 26 13 33.33 FAT2 0 genome.wustl.edu 37 5 150947209 150947209 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 150947209 150947209 G T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.1284 p.H428Q 0.011 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 33 0 0.00 28 2 6.67 FCGBP 0 genome.wustl.edu 37 19 40420076 40420076 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 40420076 40420076 G T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.2918 p.T973K 0.985 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 20 0 0.00 34 4 10.53 FER1L6 0 genome.wustl.edu 37 8 125115393 125115393 + Missense_Mutation SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 125115393 125115393 T C SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.5132 p.L1711P 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 61 0 0.00 43 4 8.51 FERMT2 0 genome.wustl.edu 37 14 53326539 53326539 + RNA DEL T T - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 53326539 53326539 T - DEL FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 0.120 - - - no_errors FERMT2 HGNC ENSG00000073712 tier1 19 0 0.00 21 5 19.23 FREM2 0 genome.wustl.edu 37 13 39452383 39452383 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 13 39452383 39452383 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.8784 p.P2928 0.997 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 47 0 0.00 45 4 8.16 GDPD4 0 genome.wustl.edu 37 11 76980066 76980066 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 76980066 76980066 A G SNP GDPD4 ENST00000376217 human ensembl 74_37 -1 known missense c.527 p.L176P 0.008 NULL pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD4 HGNC ENSG00000178795 tier1 - - 35 0 0.00 29 4 12.12 GHRHR 0 genome.wustl.edu 37 7 31018816 31018816 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 31018816 31018816 C T SNP GHRHR ENST00000326139 human ensembl 74_37 +1 known missense c.1229 p.T410M 0.001 prints_GPCR_2_GHRH_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors GHRHR HGNC ENSG00000106128 35 0 0.00 24 2 7.69 GIMAP2 0 genome.wustl.edu 37 7 150389659 150389659 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 150389659 150389659 G T SNP GIMAP2 ENST00000223293 human ensembl 74_37 +1 known silent c.285 p.V95 0.007 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP2 HGNC ENSG00000106560 30 0 0.00 33 2 5.71 GNB2 0 genome.wustl.edu 37 7 100275870 100275870 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 100275870 100275870 C T SNP GNB2 ENST00000303210 human ensembl 74_37 +1 known missense c.647 p.S216F 0.795 pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC ENSG00000172354 tier1 - - 27 0 0.00 39 4 9.30 GOLM1 0 genome.wustl.edu 37 9 88648293 88648293 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 88648293 88648293 G T SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known missense c.1033 p.L345M 0.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 34 0 0.00 37 2 5.13 GPR158 0 genome.wustl.edu 37 10 25887338 25887338 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 25887338 25887338 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.2783 p.R928H 0.003 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 25 0 0.00 25 2 7.41 GPX8 0 genome.wustl.edu 37 5 54460059 54460059 + RNA SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 54460059 54460059 G A SNP GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 tier1 rs1047689 - 37 0 0.00 19 7 26.92 GRM1 0 genome.wustl.edu 37 6 146720526 146720526 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 146720526 146720526 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2351 p.A784V 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 91 0 0.00 51 4 7.27 GRXCR1 0 genome.wustl.edu 37 4 43022413 43022413 + Nonsense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 4 43022413 43022413 C T SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known nonsense c.670 p.Q224* 1.000 superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 73 0 0.00 45 3 6.12 GZF1 0 genome.wustl.edu 37 20 23349538 23349538 + Silent SNP A A T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 20 23349538 23349538 A T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.1599 p.S533 0.289 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 tier1 - - 89 0 0.00 71 4 5.33 HAO1 0 genome.wustl.edu 37 20 7864254 7864254 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 20 7864254 7864254 C T SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known missense c.1099 p.V367I 1.000 NULL pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 55 0 0.00 40 3 6.98 HAPLN4 0 genome.wustl.edu 37 19 19369598 19369598 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 19369598 19369598 G A SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.551 p.A184V 0.996 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 tier1 - - 46 0 0.00 20 15 42.86 HBD 0 genome.wustl.edu 37 11 5255229 5255229 + Missense_Mutation SNP T T A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 5255229 5255229 T A SNP HBD ENST00000380299 human ensembl 74_37 -1 known missense c.307 p.N103Y 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin - no_errors HBD HGNC ENSG00000223609 67 0 0.00 64 4 5.88 HBG1 0 genome.wustl.edu 37 11 5269622 5269622 + Silent SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 5269622 5269622 T G SNP HBG1 ENST00000330597 human ensembl 74_37 -1 known silent c.411 p.A137 0.575 superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG1 HGNC ENSG00000213934 tier1 - - 74 0 0.00 15 39 72.22 HDGFRP2 0 genome.wustl.edu 37 19 4475476 4475476 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 4475476 4475476 G T SNP HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known missense c.184 p.D62Y 0.997 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 64 0 0.00 35 2 5.41 HEG1 0 genome.wustl.edu 37 3 124731486 124731487 + Frame_Shift_Del DEL TG TG - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 124731486 124731487 TG - DEL HEG1 ENST00000311127 human ensembl 74_37 -1 known frame_shift_del c.2937_2936 p.T979fs 0.000:0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 tier1 49 0 0.00 55 7 11.29 HERC1 0 genome.wustl.edu 37 15 63970452 63970452 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 63970452 63970452 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.6662 p.R2221H 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 45 0 0.00 38 4 9.52 HERC2P3 0 genome.wustl.edu 37 15 20588507 20588507 + RNA SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 20588507 20588507 A C SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 56 0 0.00 44 12 21.43 HSD11B2 0 genome.wustl.edu 37 16 67470654 67470654 + Silent SNP A A T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 67470654 67470654 A T SNP HSD11B2 ENST00000326152 human ensembl 74_37 +1 known silent c.966 p.V322 0.554 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 tier1 - - 50 0 0.00 26 14 35.00 HSP90AB2P 0 genome.wustl.edu 37 4 13335143 13335143 + RNA SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 4 13335143 13335143 C T SNP HSP90AB2P ENST00000602906 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors HSP90AB2P HGNC ENSG00000205940 tier1 - - 59 0 0.00 45 4 8.16 HSPA12A 0 genome.wustl.edu 37 10 118451962 118451962 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 118451962 118451962 G A SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.563 p.A188V 0.998 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 tier1 - - 41 0 0.00 27 26 49.06 IFFO1 0 genome.wustl.edu 37 12 6664942 6664942 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 6664942 6664942 C T SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known missense c.254 p.R85H 1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 tier1 - - 45 0 0.00 20 13 39.39 IGDCC3 0 genome.wustl.edu 37 15 65625621 65625621 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 65625621 65625621 G T SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.956 p.T319K 0.998 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGDCC3 HGNC ENSG00000174498 tier1 - - 70 0 0.00 46 4 8.00 IGDCC4 0 genome.wustl.edu 37 15 65674195 65674195 + RNA SNP C C G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 65674195 65674195 C G SNP IGDCC4 ENST00000558048 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors IGDCC4 HGNC ENSG00000103742 tier1 - - 41 0 0.00 27 30 52.63 IGFN1 0 genome.wustl.edu 37 1 201177500 201177500 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 201177500 201177500 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.3479 p.S1160N 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 33 0 0.00 55 4 6.67 IL26 0 genome.wustl.edu 37 12 68619437 68619437 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 68619437 68619437 G T SNP IL26 ENST00000229134 human ensembl 74_37 -1 known missense c.100 p.P34T 0.001 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core - no_errors IL26 HGNC ENSG00000111536 42 0 0.00 53 3 5.36 INHBA 0 genome.wustl.edu 37 7 41729122 41729122 + RNA DEL T T - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 41729122 41729122 T - DEL INHBA ENST00000464515 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors INHBA HGNC ENSG00000122641 tier1 65 0 0.00 31 18 36.73 INTS8 0 genome.wustl.edu 37 8 95879377 95879377 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 95879377 95879377 G A SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.2305 p.V769I 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 tier1 - - 45 0 0.00 35 9 20.45 IQCE 0 genome.wustl.edu 37 7 2622228 2622228 + Silent SNP G G C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 2622228 2622228 G C SNP IQCE ENST00000402050 human ensembl 74_37 +1 known silent c.645 p.L215 0.916 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 tier1 - - 8 0 0.00 18 8 30.77 ITGB4 0 genome.wustl.edu 37 17 73732144 73732144 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 73732144 73732144 G T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.1670 p.C557F 1.000 pirsf_Integrin_bsu-4,pfam_EGF_extracell pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 23 0 0.00 30 3 9.09 KIN 0 genome.wustl.edu 37 10 7797981 7797981 + RNA SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 7797981 7797981 G T SNP KIN ENST00000463666 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors KIN HGNC ENSG00000151657 tier1 - - 96 0 0.00 71 4 5.33 KLHL15 0 genome.wustl.edu 37 X 24024586 24024586 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe X 24024586 24024586 T C SNP KLHL15 ENST00000328046 human ensembl 74_37 -1 known silent c.225 p.K75 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 28 0 0.00 31 3 8.82 KRTAP10-11 0 genome.wustl.edu 37 21 46066736 46066736 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 21 46066736 46066736 G T SNP KRTAP10-11 ENST00000334670 human ensembl 74_37 +1 known missense c.361 p.G121W 0.004 NULL NULL - no_errors KRTAP10-11 HGNC ENSG00000243489 tier1 - - 118 0 0.00 120 8 6.25 LAMA1 0 genome.wustl.edu 37 18 7012081 7012081 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 18 7012081 7012081 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.3420 p.R1140 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 rs144126568 - 25 0 0.00 25 22 46.81 LAMA3 0 genome.wustl.edu 37 18 21489259 21489259 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 18 21489259 21489259 G T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.7158 p.K2386N 1.000 pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 71 0 0.00 40 4 9.09 LBX1 0 genome.wustl.edu 37 10 102987359 102987359 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 102987359 102987359 A G SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known missense c.514 p.W172R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 tier1 - - 53 0 0.00 59 4 6.35 LINC00052 0 genome.wustl.edu 37 15 88121326 88121326 + RNA SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 88121326 88121326 A C SNP LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 - - 40 0 0.00 15 6 28.57 LINC00937 0 genome.wustl.edu 37 12 8543219 8543219 + RNA SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 8543219 8543219 A G SNP LINC00937 ENST00000420040 human ensembl 74_37 -1 known rna NULL NULL 0.698 - - - no_errors LINC00937 HGNC ENSG00000226091 10 0 0.00 22 7 24.14 LINC00937 0 genome.wustl.edu 37 12 8543224 8543224 + RNA SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 8543224 8543224 T C SNP LINC00937 ENST00000420040 human ensembl 74_37 -1 known rna NULL NULL 0.890 - - - no_errors LINC00937 HGNC ENSG00000226091 10 0 0.00 23 6 20.69 LPHN2 0 genome.wustl.edu 37 1 82447530 82447530 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 82447530 82447530 T G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.3185 p.L1062R 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 82 0 0.00 40 39 49.37 LRP1B 0 genome.wustl.edu 37 2 141291618 141291618 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 141291618 141291618 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.7734 p.G2578 0.922 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 52 0 0.00 51 9 15.00 LRP1B 0 genome.wustl.edu 37 2 141665526 141665526 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 141665526 141665526 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3440 p.T1147N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 42 0 0.00 26 13 33.33 LRRC16A 0 genome.wustl.edu 37 6 25452454 25452454 + RNA DEL T T - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 25452454 25452454 T - DEL LRRC16A ENST00000461945 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC16A HGNC ENSG00000079691 tier1 43 0 0.00 26 9 25.71 LYPD1 0 genome.wustl.edu 37 2 133403799 133403799 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 133403799 133403799 G A SNP LYPD1 ENST00000397463 human ensembl 74_37 -1 known missense c.245 p.A82V 0.999 NULL NULL - no_errors LYPD1 HGNC ENSG00000150551 tier1 - - 34 0 0.00 43 4 8.51 MACF1 0 genome.wustl.edu 37 1 39951742 39951743 + RNA INS - - A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 39951742 39951743 - A INS MACF1 ENST00000496360 human ensembl 74_37 +1 known rna NULL NULL 0.986:0.084 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 60 0 0.00 84 8 8.70 MAGEC3 0 genome.wustl.edu 37 X 140984507 140984507 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe X 140984507 140984507 G T SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known missense c.69 p.E23D 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 19 0 0.00 3 36 92.31 MAP2K1 0 genome.wustl.edu 37 15 66727483 66727483 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 66727483 66727483 G T SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known missense c.199 p.D67Y 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 tier1 - - 47 0 0.00 38 13 25.00 MAST1 0 genome.wustl.edu 37 19 12985623 12985623 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 12985623 12985623 C T SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.4652 p.A1551V 0.847 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 - - 58 0 0.00 38 4 9.52 MCM8 0 genome.wustl.edu 37 20 5933133 5933133 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 20 5933133 5933133 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.212 p.R71Q 0.038 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 45 0 0.00 35 2 5.41 MDH2 0 genome.wustl.edu 37 7 75692863 75692863 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 75692863 75692863 G T SNP MDH2 ENST00000315758 human ensembl 74_37 +1 known missense c.586 p.V196F 1.000 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 - no_errors MDH2 HGNC ENSG00000146701 tier1 - - 67 0 0.00 85 5 5.56 MICB 0 genome.wustl.edu 37 6 31474923 31474923 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 31474923 31474923 G T SNP MICB ENST00000252229 human ensembl 74_37 +1 known missense c.738 p.L246F 0.004 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors MICB HGNC ENSG00000204516 90 0 0.00 63 4 5.97 MRPS27 0 genome.wustl.edu 37 5 71616208 71616208 + RNA SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 71616208 71616208 G T SNP MRPS27 ENST00000506957 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors MRPS27 HGNC ENSG00000113048 tier1 - - 52 0 0.00 34 4 10.53 MTBP 0 genome.wustl.edu 37 8 121483104 121483104 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 121483104 121483104 G T SNP MTBP ENST00000305949 human ensembl 74_37 +1 known silent c.1092 p.L364 0.338 NULL NULL - no_errors MTBP HGNC ENSG00000172167 tier1 - - 55 0 0.00 57 4 6.56 MYH4 0 genome.wustl.edu 37 17 10367852 10367852 + Nonsense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 10367852 10367852 G T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known nonsense c.585 p.Y195* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 57 0 0.00 34 2 5.56 MYO18A 0 genome.wustl.edu 37 17 27442774 27442774 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 27442774 27442774 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.2135 p.A712V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 63 0 0.00 67 4 5.63 MYO3B 0 genome.wustl.edu 37 2 171262136 171262136 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 171262136 171262136 C T SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.2540 p.A847V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 80 0 0.00 87 5 5.43 MYRIP 0 genome.wustl.edu 37 3 40085745 40085745 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 40085745 40085745 C T SNP MYRIP ENST00000396217 human ensembl 74_37 +1 known missense c.185 p.A62V 0.296 NULL pfam_Myrip/Melanophilin - no_errors MYRIP HGNC ENSG00000170011 34 0 0.00 39 3 7.14 NACAD 0 genome.wustl.edu 37 7 45124645 45124645 + Silent SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 45124645 45124645 A G SNP NACAD ENST00000490531 human ensembl 74_37 -1 known silent c.1134 p.F378 0.998 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACAD HGNC ENSG00000136274 29 0 0.00 31 4 11.43 NAV3 0 genome.wustl.edu 37 12 78522596 78522596 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 78522596 78522596 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.4391 p.P1464L 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 47 0 0.00 39 8 17.02 NBEA 0 genome.wustl.edu 37 13 35683448 35683448 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 13 35683448 35683448 A G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.1702 p.R568G 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 60 0 0.00 29 2 6.45 NBEA 0 genome.wustl.edu 37 13 35785239 35785239 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 13 35785239 35785239 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.5571 p.V1857 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 41 0 0.00 28 2 6.67 NCKAP1 0 genome.wustl.edu 37 2 183817847 183817847 + Missense_Mutation SNP G G C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 183817847 183817847 G C SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.2384 p.T795R 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 tier1 - - 77 0 0.00 83 7 7.78 NCSTN 0 genome.wustl.edu 37 1 160314633 160314633 + RNA SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 160314633 160314633 T C SNP NCSTN ENST00000465223 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors NCSTN HGNC ENSG00000162736 tier1 - - 31 0 0.00 12 18 60.00 NEBL 0 genome.wustl.edu 37 10 21112176 21112176 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 21112176 21112176 T C SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.1923 p.E641 0.988 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 tier1 - - 51 0 0.00 50 8 13.79 NF1 0 genome.wustl.edu 37 17 29576057 29576057 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 29576057 29576057 G A SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.4030 p.E1344K 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 45 0 0.00 48 3 5.88 NIN 0 genome.wustl.edu 37 14 51227050 51227050 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 51227050 51227050 C T SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.1924 p.E642K 0.984 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 57 0 0.00 35 2 5.41 NIPAL4 0 genome.wustl.edu 37 5 156899589 156899589 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 156899589 156899589 T G SNP NIPAL4 ENST00000311946 human ensembl 74_37 +1 known missense c.1022 p.V341G 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 tier1 - - 54 0 0.00 21 9 30.00 NLRC3 0 genome.wustl.edu 37 16 3613531 3613531 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 3613531 3613531 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known silent c.1548 p.G516 0.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 55 0 0.00 31 4 11.43 NRG1 0 genome.wustl.edu 37 8 32505698 32505698 + Missense_Mutation SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 32505698 32505698 A C SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known missense c.462 p.Q154H 0.996 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 42 0 0.00 29 18 38.30 NTNG2 0 genome.wustl.edu 37 9 135102326 135102326 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 135102326 135102326 C T SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known silent c.948 p.C316 0.994 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 tier1 rs200407107 - 111 0 0.00 24 45 65.22 NUP205 0 genome.wustl.edu 37 7 135303237 135303237 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 135303237 135303237 G T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known silent c.3849 p.L1283 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 48 0 0.00 29 2 6.45 NUP93 0 genome.wustl.edu 37 16 56839482 56839482 + Nonsense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 56839482 56839482 C T SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known nonsense c.427 p.R143* 1.000 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 tier1 - - 67 0 0.00 59 4 6.35 NUTM1 0 genome.wustl.edu 37 15 34640383 34640383 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 34640383 34640383 G A SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.230 p.G77D 0.007 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 42 0 0.00 28 4 12.50 OBSCN 0 genome.wustl.edu 37 1 228481160 228481160 + Missense_Mutation SNP G G C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 228481160 228481160 G C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.10974 p.W3658C 0.923 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 43 0 0.00 50 10 16.67 OBSL1 0 genome.wustl.edu 37 2 220435003 220435003 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 220435003 220435003 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.952 p.V318I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 17 0 0.00 12 5 29.41 OCA2 0 genome.wustl.edu 37 15 28000611 28000611 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 28000611 28000611 A G SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.2440 p.F814L 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 37 0 0.00 35 10 22.22 OR10A3 0 genome.wustl.edu 37 11 7960520 7960520 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 7960520 7960520 G T SNP OR10A3 ENST00000360759 human ensembl 74_37 -1 known missense c.548 p.P183Q 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A3 HGNC ENSG00000170683 35 0 0.00 34 2 5.56 OR10G8 0 genome.wustl.edu 37 11 123900725 123900725 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 123900725 123900725 C T SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.396 p.T132 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 tier1 - - 73 0 0.00 31 39 55.71 OR2AK2 0 genome.wustl.edu 37 1 248128938 248128938 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 248128938 248128938 C T SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.305 p.S102L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 tier1 - - 52 0 0.00 34 33 49.25 OR2T27 0 genome.wustl.edu 37 1 248813950 248813950 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 248813950 248813950 G A SNP OR2T27 ENST00000344889 human ensembl 74_37 -1 known missense c.236 p.P79L 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T27 HGNC ENSG00000187701 66 0 0.00 73 4 5.19 OR2T7 0 genome.wustl.edu 37 1 248604716 248604716 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 248604716 248604716 C T SNP OR2T7 ENST00000460972 human ensembl 74_37 +1 known missense c.209 p.P70L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T7 HGNC ENSG00000227152 tier1 - - 31 0 0.00 37 6 13.95 OR4A15 0 genome.wustl.edu 37 11 55135763 55135763 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 55135763 55135763 T G SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.404 p.F135C 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 tier1 - - 76 0 0.00 19 36 65.45 OR5K4 0 genome.wustl.edu 37 3 98073607 98073607 + Missense_Mutation SNP A A T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 98073607 98073607 A T SNP OR5K4 ENST00000354924 human ensembl 74_37 +1 known missense c.910 p.N304Y 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K4 HGNC ENSG00000196098 tier1 - - 43 0 0.00 30 23 43.40 OR7G1 0 genome.wustl.edu 37 19 9225668 9225668 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 9225668 9225668 C T SNP OR7G1 ENST00000293614 human ensembl 74_37 -1 known missense c.772 p.V258M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 tier1 - - 33 0 0.00 34 4 10.53 PAQR5 0 genome.wustl.edu 37 15 69689881 69689881 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 69689881 69689881 A G SNP PAQR5 ENST00000340965 human ensembl 74_37 +1 known missense c.587 p.D196G 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR5 HGNC ENSG00000137819 78 0 0.00 72 4 5.26 PCDHB12 0 genome.wustl.edu 37 5 140589508 140589508 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 140589508 140589508 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1029 p.N343 0.641 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 74 0 0.00 54 4 6.90 PCDHB7 0 genome.wustl.edu 37 5 140552823 140552823 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 140552823 140552823 G T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.407 p.R136I 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 50 0 0.00 35 4 10.26 PCLO 0 genome.wustl.edu 37 7 82544889 82544889 + Missense_Mutation SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 82544889 82544889 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12413 p.S4138I 0.997 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 66 0 0.00 33 15 31.25 PCNXL4 0 genome.wustl.edu 37 14 60592386 60592386 + Missense_Mutation SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 60592386 60592386 A C SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.3112 p.S1038R 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 tier1 - - 93 0 0.00 59 16 21.05 PCP4 0 genome.wustl.edu 37 21 41270431 41270431 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 21 41270431 41270431 G T SNP PCP4 ENST00000328619 human ensembl 74_37 +1 known missense c.40 p.D14Y 1.000 NULL NULL - no_errors PCP4 HGNC ENSG00000183036 35 0 0.00 36 2 5.26 PI4KA 0 genome.wustl.edu 37 22 21064216 21064216 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 22 21064216 21064216 G T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.6153 p.G2051 0.990 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 59 0 0.00 71 5 6.58 PIGR 0 genome.wustl.edu 37 1 207112692 207112692 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 207112692 207112692 A G SNP PIGR ENST00000356495 human ensembl 74_37 -1 known missense c.160 p.Y54H 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 tier1 - - 61 0 0.00 57 14 19.72 PIP5KL1 0 genome.wustl.edu 37 9 130687414 130687414 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 130687414 130687414 C T SNP PIP5KL1 ENST00000300432 human ensembl 74_37 -1 known missense c.280 p.G94S 0.024 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 tier1 - - 51 0 0.00 42 4 8.70 PITPNM3 0 genome.wustl.edu 37 17 6381945 6381945 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 6381945 6381945 G T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.699 p.V233 0.201 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 53 0 0.00 29 2 6.45 PKHD1L1 0 genome.wustl.edu 37 8 110453578 110453578 + Missense_Mutation SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 110453578 110453578 T C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.4174 p.F1392L 0.987 superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 64 0 0.00 55 13 19.12 PLA2G15 0 genome.wustl.edu 37 16 68289777 68289777 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 68289777 68289777 C T SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known missense c.611 p.T204M 0.996 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 tier1 - - 61 0 0.00 46 15 24.59 PLXNA1 0 genome.wustl.edu 37 3 126749109 126749109 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 126749109 126749109 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.5085 p.D1695 0.994 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 tier1 - - 24 0 0.00 32 12 27.27 PLXNA4 0 genome.wustl.edu 37 7 131895861 131895861 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 131895861 131895861 G T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.2139 p.P713 0.005 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 42 0 0.00 31 2 6.06 PLXNB1 0 genome.wustl.edu 37 3 48461561 48461561 + Missense_Mutation SNP C C G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 48461561 48461561 C G SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.2134 p.E712Q 0.020 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 - - 65 0 0.00 62 6 8.82 PLXNB2 0 genome.wustl.edu 37 22 50716897 50716897 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 22 50716897 50716897 G T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.4699 p.P1567T 0.992 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 52 0 0.00 72 4 5.26 POM121L12 0 genome.wustl.edu 37 7 53103888 53103888 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 53103888 53103888 G A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.524 p.R175Q 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 tier1 - - 35 0 0.00 26 27 50.94 POM121L4P 0 genome.wustl.edu 37 22 21044536 21044536 + RNA SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 22 21044536 21044536 G A SNP POM121L4P ENST00000412250 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors POM121L4P HGNC ENSG00000217261 tier1 - - 66 0 0.00 51 26 33.33 POMC 0 genome.wustl.edu 37 2 25384468 25384468 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 25384468 25384468 C T SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.286 p.G96S 0.195 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 tier1 - - 20 0 0.00 9 9 50.00 PPAP2B 0 genome.wustl.edu 37 1 56978869 56978869 + RNA DEL A A - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 56978869 56978869 A - DEL PPAP2B ENST00000459962 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PPAP2B HGNC ENSG00000162407 tier1 38 0 0.00 42 4 8.70 PPP1R9A 0 genome.wustl.edu 37 7 94540222 94540222 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 94540222 94540222 T G SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.797 p.V266G 0.001 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 25 0 0.00 20 4 16.67 PPP1R9A 0 genome.wustl.edu 37 7 94898626 94898626 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 94898626 94898626 G T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known silent c.2811 p.P937 0.362 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 40 0 0.00 43 3 6.38 PROM1 0 genome.wustl.edu 37 4 16019941 16019941 + RNA SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 4 16019941 16019941 C T SNP PROM1 ENST00000502943 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors PROM1 HGNC ENSG00000007062 tier1 - - 27 0 0.00 6 6 50.00 PRPF40A 0 genome.wustl.edu 37 2 153520410 153520412 + In_Frame_Del DEL TCT TCT - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 153520410 153520412 TCT - DEL PRPF40A ENST00000410080 human ensembl 74_37 -1 known in_frame_del c.1951_1949 p.K650in_frame_del 1.000:1.000:1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 tier1 58 0 0.00 28 10 26.32 PWP2 0 genome.wustl.edu 37 21 45537717 45537717 + Nonsense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 21 45537717 45537717 G T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known nonsense c.853 p.E285* 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 52 0 0.00 40 3 6.98 RADIL 0 genome.wustl.edu 37 7 4874715 4874715 + Nonsense_Mutation SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 4874715 4874715 C A SNP RADIL ENST00000445392 human ensembl 74_37 -1 known nonsense c.934 p.E312* 0.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 tier1 - - 75 0 0.00 77 23 23.00 RAPH1 0 genome.wustl.edu 37 2 204360004 204360004 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 204360004 204360004 C T SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.73 p.D25N 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 tier1 - - 68 0 0.00 70 4 5.41 RBM27 0 genome.wustl.edu 37 5 145641103 145641103 + Missense_Mutation SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 145641103 145641103 C A SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.1924 p.L642I 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 - - 69 0 0.00 23 5 17.86 RFX3 0 genome.wustl.edu 37 9 3330319 3330319 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 3330319 3330319 G T SNP RFX3 ENST00000382004 human ensembl 74_37 -1 known silent c.414 p.G138 1.000 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 tier1 - - 73 0 0.00 53 4 7.02 RGS7 0 genome.wustl.edu 37 1 240978038 240978038 + Missense_Mutation SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 240978038 240978038 T C SNP RGS7 ENST00000407727 human ensembl 74_37 -1 known missense c.823 p.K275E 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS7 HGNC ENSG00000182901 tier1 - - 61 0 0.00 56 15 21.13 RHOJ 0 genome.wustl.edu 37 14 63757678 63757678 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 63757678 63757678 T G SNP RHOJ ENST00000316754 human ensembl 74_37 +1 known missense c.581 p.I194S 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 tier1 - - 59 0 0.00 27 7 20.59 RIMS1 0 genome.wustl.edu 37 6 73108016 73108016 + Missense_Mutation SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 73108016 73108016 A C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4684 p.S1562R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 64 0 0.00 21 25 54.35 RIMS2 0 genome.wustl.edu 37 8 104932954 104932954 + RNA SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 104932954 104932954 A G SNP RIMS2 ENST00000501515 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 23 0 0.00 11 5 31.25 RIN3 0 genome.wustl.edu 37 14 93154538 93154540 + In_Frame_Del DEL GGC GGC - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 93154538 93154540 GGC - DEL RIN3 ENST00000216487 human ensembl 74_37 +1 known in_frame_del c.2899_2901 p.G970in_frame_del 0.984:0.981:0.979 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 tier1 12 0 0.00 8 5 38.46 RNF152 0 genome.wustl.edu 37 18 59483338 59483338 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 18 59483338 59483338 C T SNP RNF152 ENST00000312828 human ensembl 74_37 -1 known missense c.359 p.R120H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 48 0 0.00 25 2 7.41 RNF219 0 genome.wustl.edu 37 13 79219014 79219014 + Missense_Mutation SNP G G C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 13 79219014 79219014 G C SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known missense c.191 p.P64R 1.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 57 0 0.00 56 3 5.08 RNPC3 0 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 74_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 33 0 0.00 32 5 13.51 S100P 0 genome.wustl.edu 37 4 6695679 6695679 + Missense_Mutation SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 4 6695679 6695679 C A SNP S100P ENST00000296370 human ensembl 74_37 +1 known missense c.20 p.A7D 1.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100P HGNC ENSG00000163993 52 0 0.00 30 2 6.25 SBNO2 0 genome.wustl.edu 37 19 1122178 1122178 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 1122178 1122178 C T SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.1109 p.R370Q 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 tier1 - - 49 0 0.00 15 38 71.70 SCAP 0 genome.wustl.edu 37 3 47476506 47476506 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 47476506 47476506 G T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.244 p.P82T 1.000 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 tier1 - - 48 0 0.00 62 4 6.06 SCN1A 0 genome.wustl.edu 37 2 166901723 166901723 + Missense_Mutation SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 166901723 166901723 T C SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1492 p.R498G 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 44 0 0.00 30 22 42.31 SCN5A 0 genome.wustl.edu 37 3 38592968 38592968 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 38592968 38592968 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4895 p.R1632H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 rs199473286 - 47 0 0.00 42 27 39.13 SCNN1A 0 genome.wustl.edu 37 12 6457242 6457242 + Nonsense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 6457242 6457242 G A SNP SCNN1A ENST00000358945 human ensembl 74_37 -1 known nonsense c.1873 p.Q625* 0.078 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 tier1 - - 76 0 0.00 83 31 27.19 SERTAD1 0 genome.wustl.edu 37 19 40928746 40928746 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 40928746 40928746 G A SNP SERTAD1 ENST00000357949 human ensembl 74_37 -1 known silent c.708 p.R236 0.997 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD1 HGNC ENSG00000197019 18 0 0.00 30 4 11.76 SETBP1 0 genome.wustl.edu 37 18 42643146 42643146 + Missense_Mutation SNP A A C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 18 42643146 42643146 A C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4274 p.K1425T 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 38 0 0.00 11 13 54.17 SGIP1 0 genome.wustl.edu 37 1 67147757 67147757 + Silent SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 67147757 67147757 A G SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known silent c.1032 p.P344 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 tier1 - - 55 0 0.00 31 22 41.51 SH3GL2 0 genome.wustl.edu 37 9 17787381 17787381 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 17787381 17787381 C T SNP SH3GL2 ENST00000380607 human ensembl 74_37 +1 known missense c.335 p.P112L 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 tier1 - - 67 0 0.00 41 4 8.89 SI 0 genome.wustl.edu 37 3 164730810 164730810 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 164730810 164730810 G T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4020 p.N1340K 0.855 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 37 0 0.00 22 9 29.03 SLC12A5 0 genome.wustl.edu 37 20 44681762 44681762 + Missense_Mutation SNP C C G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 20 44681762 44681762 C G SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.2613 p.H871Q 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 40 0 0.00 39 18 31.58 SLC22A7 0 genome.wustl.edu 37 6 43270152 43270152 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 43270152 43270152 G T SNP SLC22A7 ENST00000372585 human ensembl 74_37 +1 known missense c.1276 p.D426Y 0.965 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 24 0 0.00 17 2 10.53 SLC24A4 0 genome.wustl.edu 37 14 92908448 92908448 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 14 92908448 92908448 G A SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.409 p.E137K 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 tier1 - - 24 0 0.00 13 6 31.58 SLC2A9 0 genome.wustl.edu 37 4 10027509 10027510 + RNA INS - - A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 4 10027509 10027510 - A INS SLC2A9 ENST00000509214 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SLC2A9 HGNC ENSG00000109667 tier1 52 0 0.00 38 3 7.32 SLC35C1 0 genome.wustl.edu 37 11 45832403 45832403 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 45832403 45832403 G T SNP SLC35C1 ENST00000314134 human ensembl 74_37 +1 known silent c.612 p.L204 1.000 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA,pfam_DMT - no_errors SLC35C1 HGNC ENSG00000181830 tier1 - - 62 0 0.00 37 4 9.76 SLCO1B3 0 genome.wustl.edu 37 12 21033792 21033792 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 21033792 21033792 T C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known silent c.1335 p.N445 0.096 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 41 0 0.00 27 19 41.30 SMARCA2 0 genome.wustl.edu 37 9 2182150 2182150 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 2182150 2182150 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4369 p.R1457C 0.997 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 35 0 0.00 35 2 5.41 SORT1 0 genome.wustl.edu 37 1 109856993 109856993 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 109856993 109856993 G T SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known silent c.2371 p.R791 0.999 NULL pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 23 0 0.00 28 2 6.67 SOX6 0 genome.wustl.edu 37 11 16760076 16760076 + RNA SNP T T A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 16760076 16760076 T A SNP SOX6 ENST00000524520 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors SOX6 HGNC ENSG00000110693 tier1 - - 119 0 0.00 22 50 69.44 SP100 0 genome.wustl.edu 37 2 231404024 231404024 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 231404024 231404024 C T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.2137 p.R713W 0.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 36 0 0.00 46 3 6.12 SPATA32 0 genome.wustl.edu 37 17 43332527 43332527 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 43332527 43332527 A G SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known missense c.1022 p.L341P 0.965 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 68 0 0.00 111 6 5.13 SPATA6L 0 genome.wustl.edu 37 9 4661989 4661989 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 4661989 4661989 G T SNP SPATA6L ENST00000454239 human ensembl 74_37 -1 known silent c.87 p.L29 0.545 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 23 0 0.00 10 2 16.67 SPON1 0 genome.wustl.edu 37 11 14276219 14276219 + RNA SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 14276219 14276219 G T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 tier1 - - 80 0 0.00 49 4 7.55 SRP68 0 genome.wustl.edu 37 17 74046583 74046583 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 74046583 74046583 G A SNP SRP68 ENST00000307877 human ensembl 74_37 -1 known missense c.1003 p.R335C 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 35 0 0.00 30 3 9.09 ST6GAL2 0 genome.wustl.edu 37 2 107459975 107459975 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 107459975 107459975 G T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.459 p.P153 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 tier1 - - 33 0 0.00 13 12 48.00 SUCLG1 0 genome.wustl.edu 37 2 84668530 84668530 + Frame_Shift_Del DEL A A - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 84668530 84668530 A - DEL SUCLG1 ENST00000393868 human ensembl 74_37 -1 known frame_shift_del c.372 p.F124fs 1.000 pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha - no_errors SUCLG1 HGNC ENSG00000163541 tier1 29 0 0.00 22 2 8.33 SVIL 0 genome.wustl.edu 37 10 29777621 29777621 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 10 29777621 29777621 G T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.4257 p.S1419R 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 45 0 0.00 42 3 6.67 SYP 0 genome.wustl.edu 37 X 49050791 49050791 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe X 49050791 49050791 G A SNP SYP ENST00000263233 human ensembl 74_37 -1 known silent c.255 p.P85 0.972 pfam_Marvel pfam_Marvel,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 tier1 - - 10 0 0.00 4 13 76.47 TAF5L 0 genome.wustl.edu 37 1 229730114 229730114 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 229730114 229730114 A G SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known missense c.1700 p.L567P 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 tier1 - - 48 0 0.00 60 4 6.25 TBC1D32 0 genome.wustl.edu 37 6 121642778 121642778 + Splice_Site SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 121642778 121642778 C T SNP TBC1D32 ENST00000464622 human ensembl 74_37 -1 known splice_site c.317+1 e2+1 1.000 - - - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 47 0 0.00 10 30 75.00 TBL3 0 genome.wustl.edu 37 16 2024606 2024606 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 2024606 2024606 G A SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.305 p.R102H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 tier1 - - 64 0 0.00 40 13 24.53 TDRD6 0 genome.wustl.edu 37 6 46656622 46656622 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 46656622 46656622 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.757 p.A253T 0.991 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 83 0 0.00 48 4 7.69 TECTA 0 genome.wustl.edu 37 11 120976651 120976651 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 120976651 120976651 G T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.176 p.G59V 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 65 0 0.00 51 4 7.27 TENM3 0 genome.wustl.edu 37 4 183721070 183721070 + Frame_Shift_Del DEL G G - TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 4 183721070 183721070 G - DEL TENM3 ENST00000406950 human ensembl 74_37 +1 known frame_shift_del c.7666 p.E2556fs 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 17 0 0.00 23 2 8.00 TICRR 0 genome.wustl.edu 37 15 90127587 90127587 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 90127587 90127587 G T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.1005 p.Q335H 0.133 NULL NULL - no_errors TICRR HGNC ENSG00000140534 tier1 - - 52 0 0.00 43 4 8.51 TMEM214 0 genome.wustl.edu 37 2 27261402 27261402 + Splice_Site SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 27261402 27261402 T C SNP TMEM214 ENST00000238788 human ensembl 74_37 +1 known splice_site c.1293+2 e11+2 1.000 - - - no_errors TMEM214 HGNC ENSG00000119777 45 0 0.00 31 4 11.43 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934576 GMAF=0.0005 32 0 0.00 5 14 73.68 TRIM42 0 genome.wustl.edu 37 3 140397334 140397334 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 140397334 140397334 G T SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known missense c.263 p.C88F 0.996 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 25 0 0.00 45 4 8.16 TRIP10 0 genome.wustl.edu 37 19 6743039 6743039 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 6743039 6743039 C T SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.259 p.R87W 1.000 pfam_FCH_dom,smart_FCH_dom pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 26 0 0.00 26 2 7.14 TSTA3 0 genome.wustl.edu 37 8 144697055 144697055 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 8 144697055 144697055 G T SNP TSTA3 ENST00000425753 human ensembl 74_37 -1 known missense c.292 p.L98M 1.000 pfam_Epimerase_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 tier1 - - 42 0 0.00 42 4 8.51 TTN 0 genome.wustl.edu 37 2 179431188 179431188 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 179431188 179431188 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.71967 p.Q23989H 0.994 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 65 0 0.00 43 19 30.65 UBE2QL1 0 genome.wustl.edu 37 5 6449066 6449066 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 6449066 6449066 G A SNP UBE2QL1 ENST00000399816 human ensembl 74_37 +1 known silent c.60 p.V20 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2QL1 HGNC ENSG00000215218 tier1 - - 18 0 0.00 9 6 40.00 UBR1 0 genome.wustl.edu 37 15 43339472 43339472 + Nonsense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 15 43339472 43339472 G A SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known nonsense c.1555 p.R519* 1.000 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 UBR1 HGNC ENSG00000159459 48 0 0.00 38 2 5.00 ULK4 0 genome.wustl.edu 37 3 41497036 41497036 + Silent SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 41497036 41497036 C A SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known silent c.3444 p.L1148 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 tier1 - - 54 0 0.00 41 12 22.64 UNC13A 0 genome.wustl.edu 37 19 17750295 17750295 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 17750295 17750295 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.3160 p.L1054I 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 92 0 0.00 73 4 5.19 UPK2 0 genome.wustl.edu 37 11 118828379 118828379 + Splice_Site SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 11 118828379 118828379 G A SNP UPK2 ENST00000264031 human ensembl 74_37 +1 known splice_site c.418+1 e4+1 1.000 - - - no_errors UPK2 HGNC ENSG00000110375 32 0 0.00 25 2 7.41 USP13 0 genome.wustl.edu 37 3 179474859 179474859 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 3 179474859 179474859 G A SNP USP13 ENST00000263966 human ensembl 74_37 +1 known silent c.1941 p.L647 0.604 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 tier1 - - 127 0 0.00 79 66 45.52 USP6 0 genome.wustl.edu 37 17 5037241 5037241 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 5037241 5037241 G A SNP USP6 ENST00000250066 human ensembl 74_37 +1 known silent c.444 p.V148 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 rs117611547 - 119 0 0.00 74 7 8.64 VASP 0 genome.wustl.edu 37 19 46029233 46029233 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 46029233 46029233 G A SNP VASP ENST00000245932 human ensembl 74_37 +1 known silent c.1077 p.L359 0.549 pirsf_Vasodilator_phosphoprotein,pfam_VASP_tetra pirsf_Vasodilator_phosphoprotein,pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors VASP HGNC ENSG00000125753 tier1 - - 47 0 0.00 62 4 6.06 VAT1L 0 genome.wustl.edu 37 16 77822749 77822749 + Missense_Mutation SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 77822749 77822749 G A SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known missense c.170 p.R57Q 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 tier1 - - 160 0 0.00 63 36 36.36 VCAN 0 genome.wustl.edu 37 5 82815321 82815321 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 82815321 82815321 G T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.1196 p.G399V 0.973 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 30 0 0.00 33 3 8.33 WDR54 0 genome.wustl.edu 37 2 74650443 74650443 + RNA SNP C C A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 74650443 74650443 C A SNP WDR54 ENST00000461531 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors WDR54 HGNC ENSG00000005448 tier1 - - 42 0 0.00 63 4 5.97 WDR66 0 genome.wustl.edu 37 12 122398616 122398616 + Silent SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 12 122398616 122398616 G T SNP WDR66 ENST00000288912 human ensembl 74_37 +1 known silent c.2259 p.L753 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 - - 51 0 0.00 44 4 8.33 WWOX 0 genome.wustl.edu 37 16 78133583 78133583 + RNA SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 16 78133583 78133583 C T SNP WWOX ENST00000562214 human ensembl 74_37 +1 putative rna NULL NULL 0.051 - - - no_errors WWOX HGNC ENSG00000186153 tier1 - - 20 0 0.00 9 5 35.71 ZACN 0 genome.wustl.edu 37 17 74076366 74076366 + Silent SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 17 74076366 74076366 C T SNP ZACN ENST00000334586 human ensembl 74_37 +1 known silent c.405 p.P135 0.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 tier1 - - 74 0 0.00 66 4 5.71 ZBTB6 0 genome.wustl.edu 37 9 125674188 125674188 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 9 125674188 125674188 G T SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known missense c.164 p.S55Y 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 30 0 0.00 20 2 9.09 ZFP62 0 genome.wustl.edu 37 5 180276223 180276223 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 5 180276223 180276223 C T SNP ZFP62 ENST00000512132 human ensembl 74_37 -1 known missense c.2173 p.V725M 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC ENSG00000196670 tier1 - - 50 0 0.00 28 12 30.00 ZNF425 0 genome.wustl.edu 37 7 148802201 148802201 + Silent SNP G G A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 148802201 148802201 G A SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known silent c.762 p.S254 0.894 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 tier1 - - 47 0 0.00 16 17 51.52 ZNF479 0 genome.wustl.edu 37 7 57193732 57193732 + Missense_Mutation SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 57193732 57193732 T G SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.255 p.K85N 0.056 pfscan_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 ZNF479 HGNC ENSG00000185177 tier1 - - 87 0 0.00 85 35 29.17 ZNF536 0 genome.wustl.edu 37 19 31039199 31039199 + Silent SNP T T G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 31039199 31039199 T G SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.2673 p.P891 0.991 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 40 0 0.00 26 19 42.22 ZNF684 0 genome.wustl.edu 37 1 41012489 41012489 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 1 41012489 41012489 G T SNP ZNF684 ENST00000372699 human ensembl 74_37 +1 known missense c.494 p.G165V 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ENSG00000117010 tier1 - - 28 0 0.00 38 4 9.52 ZNF775 0 genome.wustl.edu 37 7 150094126 150094126 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 7 150094126 150094126 C T SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.557 p.S186F 0.165 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 tier1 - - 13 0 0.00 7 6 46.15 ZNF804A 0 genome.wustl.edu 37 2 185803450 185803450 + Silent SNP T T C TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 2 185803450 185803450 T C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.3327 p.A1109 0.175 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 21 0 0.00 22 5 17.86 ZNF99 0 genome.wustl.edu 37 19 22940886 22940886 + Nonsense_Mutation SNP T T A TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 19 22940886 22940886 T A SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known nonsense c.1552 p.R518* 0.020 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 ZNF99 HGNC ENSG00000213973 tier1 - - 57 0 0.00 48 22 31.43 ZSCAN9 0 genome.wustl.edu 37 6 28195038 28195038 + Missense_Mutation SNP G G T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 953942ba-2e1d-4b5b-9cd8-65cb545a9fd1 cc398bf5-3f02-4e56-9433-4658701389fe 6 28195038 28195038 G T SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known missense c.176 p.C59F 0.854 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZSCAN9 HGNC ENSG00000137185 tier1 - - 38 0 0.00 29 5 14.71