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 AARD 0 genome.wustl.edu 37 8 117950574 117950574 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 117950574 117950574 G A SNP AARD ENST00000378279 human ensembl 74_37 +1 known missense c.92 p.R31H 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 tier1 - - 37 0 0.00 38 4 9.52 ADAM17 0 genome.wustl.edu 37 2 9633029 9633029 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 9633029 9633029 C A SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.2080 p.V694L 1.000 NULL pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 tier1 - - 34 0 0.00 24 4 14.29 ADAM20 0 genome.wustl.edu 37 14 70989503 70989503 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 14 70989503 70989503 A C SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known missense c.2122 p.W708G 0.947 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 tier1 - - 202 0 0.00 198 15 7.04 ADAM9 0 genome.wustl.edu 37 8 38854597 38854597 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 38854597 38854597 G A SNP ADAM9 ENST00000487273 human ensembl 74_37 +1 known silent c.15 p.A5 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 tier1 - - 30 0 0.00 45 5 10.00 ADAMTS14 0 genome.wustl.edu 37 10 72489861 72489861 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 72489861 72489861 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known silent c.958 p.L320 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,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 ADAMTS14 HGNC ENSG00000138316 tier1 - - 89 0 0.00 61 12 16.44 ADRA1A 0 genome.wustl.edu 37 8 26722347 26722347 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 26722347 26722347 A C SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.140 p.V47G 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 tier1 - - 235 0 0.00 320 30 8.55 AIM2 0 genome.wustl.edu 37 1 159032487 159032487 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 159032487 159032487 T - DEL AIM2 ENST00000368130 human ensembl 74_37 -1 known frame_shift_del c.1027 p.T343fs 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors AIM2 HGNC ENSG00000163568 tier1 58 0 0.00 41 5 10.87 AKAP3 0 genome.wustl.edu 37 12 4735724 4735724 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 4735724 4735724 C A SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.2344 p.A782S 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 tier1 - - 105 0 0.00 93 33 25.98 ALOX12 0 genome.wustl.edu 37 17 6902119 6902119 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 6902119 6902119 G A SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.505 p.E169K 0.992 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 tier1 - - 41 0 0.00 34 5 12.82 ALPL 0 genome.wustl.edu 37 1 21890601 21890601 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 21890601 21890601 C T SNP ALPL ENST00000374832 human ensembl 74_37 +1 known silent c.540 p.H180 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 tier1 - - 51 0 0.00 20 8 28.57 AMPD2 0 genome.wustl.edu 37 1 110167941 110167941 + Frame_Shift_Del DEL G G - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 110167941 110167941 G - DEL AMPD2 ENST00000256578 human ensembl 74_37 +1 known frame_shift_del c.270 p.A92fs 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 tier1 41 0 0.00 30 3 9.09 ANK1 0 genome.wustl.edu 37 8 41542098 41542098 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 41542098 41542098 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.4501 p.D1501N 0.989 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 57 0 0.00 46 6 11.54 ANO2 0 genome.wustl.edu 37 12 5915236 5915236 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 5915236 5915236 G A SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known silent c.963 p.D321 0.633 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 39 0 0.00 59 19 24.36 AP2A2 0 genome.wustl.edu 37 11 977124 977124 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 977124 977124 C T SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.503 p.A168V 0.997 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 tier1 - - 53 0 0.00 42 7 14.29 APBA1 0 genome.wustl.edu 37 9 72047570 72047570 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 9 72047570 72047570 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.2324 p.G775E 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 42 0 0.00 64 10 13.51 APOB 0 genome.wustl.edu 37 2 21232976 21232976 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 21232976 21232976 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.6764 p.K2255T 0.889 superfamily_ARM-type_fold 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 - - 61 0 0.00 60 7 10.45 ARF6 0 genome.wustl.edu 37 14 50360633 50360633 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 14 50360633 50360633 A G SNP ARF6 ENST00000298316 human ensembl 74_37 +1 known missense c.179 p.N60S 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF6 HGNC ENSG00000165527 tier1 - - 42 0 0.00 38 7 15.56 ARHGAP31 0 genome.wustl.edu 37 3 119133285 119133285 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 3 119133285 119133285 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.2509 p.E837K 0.013 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 39 0 0.00 41 11 21.15 ATAD5 0 genome.wustl.edu 37 17 29214371 29214371 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 29214371 29214371 A C SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.4239 p.E1413D 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 tier1 - - 96 0 0.00 90 23 20.35 ATP1A3 0 genome.wustl.edu 37 19 42479896 42479896 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 42479896 42479896 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.2148 p.K716 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase 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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 tier1 - - 122 0 0.00 136 19 12.26 ATP8B4 0 genome.wustl.edu 37 15 50154456 50154456 + Missense_Mutation SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 50154456 50154456 T C SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.3283 p.T1095A 0.969 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B4 HGNC ENSG00000104043 tier1 - - 59 0 0.00 66 11 14.29 BICC1 0 genome.wustl.edu 37 10 60573689 60573689 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 60573689 60573689 A C SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2476 p.S826R 0.171 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 95 0 0.00 103 6 5.50 BMP1 0 genome.wustl.edu 37 8 22069239 22069239 + Nonstop_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 22069239 22069239 T G SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known nonstop c.2959 p.*987G 1.000 NULL pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 tier1 - - 76 0 0.00 84 5 5.56 BMPR1B 0 genome.wustl.edu 37 4 96075719 96075719 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 4 96075719 96075719 A C SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.1494 p.K498N 0.998 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_TGFB_receptor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 tier1 - - 70 0 0.00 39 4 9.30 BNC2 0 genome.wustl.edu 37 9 16436006 16436006 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 9 16436006 16436006 G A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2186 p.S729L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 95 0 0.00 91 20 18.02 BRSK1 0 genome.wustl.edu 37 19 55814112 55814112 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 55814112 55814112 G A SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.953 p.R318H 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 tier1 - - 112 0 0.00 59 14 19.18 C17orf64 0 genome.wustl.edu 37 17 58504090 58504090 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 58504090 58504090 G A SNP C17orf64 ENST00000269127 human ensembl 74_37 +1 known missense c.341 p.R114Q 0.932 NULL NULL - no_errors C17orf64 HGNC ENSG00000141371 tier1 - - 25 0 0.00 21 5 19.23 C5AR2 0 genome.wustl.edu 37 19 47844986 47844986 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 47844986 47844986 C T SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known silent c.930 p.A310 0.973 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 tier1 - - 71 0 0.00 43 11 20.37 C8orf34 0 genome.wustl.edu 37 8 69351818 69351818 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 69351818 69351818 C A SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known missense c.412 p.R138S 0.301 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 tier1 - - 50 0 0.00 85 11 11.46 CA10 0 genome.wustl.edu 37 17 50149732 50149732 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 50149732 50149732 A G SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.101 p.I34T 1.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 tier1 - - 107 0 0.00 104 16 13.22 CALCB 0 genome.wustl.edu 37 11 15096663 15096663 + Missense_Mutation SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 15096663 15096663 T C SNP CALCB ENST00000324229 human ensembl 74_37 +1 known missense c.143 p.L48P 1.000 pfam_Procalcitonin/adrenomedullin pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC ENSG00000175868 tier1 - - 64 0 0.00 63 5 7.35 CCDC158 0 genome.wustl.edu 37 4 77272153 77272153 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 4 77272153 77272153 G A SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.2660 p.S887F 0.994 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 tier1 - - 102 0 0.00 66 17 20.48 CCDC88B 0 genome.wustl.edu 37 11 64111692 64111692 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 64111692 64111692 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.1679 p.S560N 0.006 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 tier1 - - 83 0 0.00 85 7 7.61 CD38 0 genome.wustl.edu 37 4 15826577 15826577 + Missense_Mutation SNP A A T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 4 15826577 15826577 A T SNP CD38 ENST00000226279 human ensembl 74_37 +1 known missense c.437 p.E146V 1.000 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 tier1 - - 51 0 0.00 63 8 11.27 CDC23 0 genome.wustl.edu 37 5 137525341 137525341 + Missense_Mutation SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 137525341 137525341 T C SNP CDC23 ENST00000394886 human ensembl 74_37 -1 known missense c.1604 p.K535R 1.000 smart_TPR_repeat pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC ENSG00000094880 tier1 - - 72 0 0.00 69 6 8.00 CDH6 0 genome.wustl.edu 37 5 31305340 31305340 + Nonsense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 31305340 31305340 T G SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known nonsense c.1059 p.Y353* 0.005 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 75 0 0.00 55 13 19.12 CDH6 0 genome.wustl.edu 37 5 31313500 31313500 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 31313500 31313500 G A SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known silent c.1329 p.S443 0.599 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 rs142200699 - 115 0 0.00 119 16 11.85 CDK14 0 genome.wustl.edu 37 7 90747472 90747472 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 90747472 90747472 A C SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1387 p.S463R 1.000 NULL 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 CDK14 HGNC ENSG00000058091 tier1 rs35643773 - 62 0 0.00 86 6 6.52 CEP68 0 genome.wustl.edu 37 2 65299659 65299659 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 65299659 65299659 G A SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known missense c.1429 p.E477K 0.418 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 tier1 - - 69 0 0.00 50 14 21.88 CFHR3 0 genome.wustl.edu 37 1 196757435 196757435 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 196757435 196757435 A G SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.520 p.K174E 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 tier1 - - 34 0 0.00 54 10 15.62 CLUH 0 genome.wustl.edu 37 17 2595767 2595767 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 2595767 2595767 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.3331 p.G1111R 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 tier1 - - 77 0 0.00 43 12 21.82 COL11A1 0 genome.wustl.edu 37 1 103345384 103345384 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 103345384 103345384 A G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5165 p.F1722S 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C 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 - - 78 0 0.00 77 7 8.33 CPNE3 0 genome.wustl.edu 37 8 87540819 87540819 + Missense_Mutation SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 87540819 87540819 G T SNP CPNE3 ENST00000198765 human ensembl 74_37 +1 known missense c.46 p.A16S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE3 HGNC ENSG00000085719 tier1 - - 82 0 0.00 100 18 15.25 CRB1 0 genome.wustl.edu 37 1 197403874 197403874 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 197403874 197403874 A C SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known missense c.2881 p.I961L 0.169 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 77 0 0.00 100 10 9.09 CSMD1 0 genome.wustl.edu 37 8 2820009 2820009 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 2820009 2820009 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9610 p.G3204S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 29 0 0.00 41 9 18.00 DAGLB 0 genome.wustl.edu 37 7 6456529 6456529 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 6456529 6456529 G A SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known silent c.1242 p.Y414 0.983 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 tier1 - - 66 0 0.00 54 10 15.62 DCHS2 0 genome.wustl.edu 37 4 155242017 155242017 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 4 155242017 155242017 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.3169 p.D1057N 0.982 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 70 0 0.00 51 5 8.93 DCN 0 genome.wustl.edu 37 12 91572143 91572143 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 91572143 91572143 G A SNP DCN ENST00000052754 human ensembl 74_37 -1 known nonsense c.187 p.R63* 1.000 pfam_LRR-contain_N,smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 tier1 - - 100 0 0.00 83 14 14.43 DDX43 0 genome.wustl.edu 37 6 74111606 74111606 + Missense_Mutation SNP G G C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 6 74111606 74111606 G C SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known missense c.461 p.G154A 0.034 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 tier1 - - 109 0 0.00 89 10 10.10 DLX3 0 genome.wustl.edu 37 17 48069010 48069010 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 48069010 48069010 G A SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known silent c.735 p.D245 1.000 NULL pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 tier1 rs147724731 - 39 0 0.00 16 12 42.86 DNAH11 0 genome.wustl.edu 37 7 21730449 21730449 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 21730449 21730449 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.6012 p.P2004 0.942 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 DNAH11 HGNC ENSG00000105877 tier1 - - 148 0 0.00 149 33 18.03 DNAH5 0 genome.wustl.edu 37 5 13823445 13823445 + Missense_Mutation SNP A A T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 13823445 13823445 A T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.6614 p.I2205N 1.000 superfamily_P-loop_NTPase 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 DNAH5 HGNC ENSG00000039139 tier1 - - 71 0 0.00 73 7 8.75 DNAH9 0 genome.wustl.edu 37 17 11671831 11671831 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 11671831 11671831 T G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.7232 p.F2411C 1.000 NULL 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 - - 69 0 0.00 74 8 9.76 DOK1 0 genome.wustl.edu 37 2 74783904 74783904 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 74783904 74783904 C A SNP DOK1 ENST00000233668 human ensembl 74_37 +1 known missense c.1109 p.P370Q 0.902 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC ENSG00000115325 tier1 - - 57 0 0.00 48 5 9.26 DUOXA2 0 genome.wustl.edu 37 15 45408915 45408915 + Nonsense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 45408915 45408915 C A SNP DUOXA2 ENST00000323030 human ensembl 74_37 +1 known nonsense c.542 p.S181* 0.956 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 tier1 - - 28 0 0.00 25 5 16.67 EIF2B4 0 genome.wustl.edu 37 2 27591939 27591939 + Missense_Mutation SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 27591939 27591939 T C SNP EIF2B4 ENST00000347454 human ensembl 74_37 -1 known missense c.352 p.R118G 0.935 NULL pfam_IF-2B-related - no_errors EIF2B4 HGNC ENSG00000115211 tier1 - - 125 0 0.00 100 10 9.09 EML1 0 genome.wustl.edu 37 14 100357557 100357557 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 14 100357557 100357557 C A SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.597 p.F199L 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 tier1 - - 153 0 0.00 118 25 17.48 ENSG00000226113 0 genome.wustl.edu 37 10 38599132 38599132 + RNA SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 38599132 38599132 G A SNP ENSG00000226113 ENST00000450980 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-672F9.1 Clone_based_vega_gene ENSG00000226113 tier1 rs71494874 - 107 0 0.00 70 9 11.39 ENSG00000231329 0 genome.wustl.edu 37 6 139495697 139495697 + RNA SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 6 139495697 139495697 G A SNP ENSG00000231329 ENST00000590219 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-225E12.2 Clone_based_vega_gene ENSG00000231329 tier1 - - 60 0 0.00 39 15 27.78 EPHA7 0 genome.wustl.edu 37 6 93965571 93965571 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 6 93965571 93965571 T G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2357 p.D786A 1.000 pirsf_Tyr_kinase_ephrin_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,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 63 0 0.00 61 6 8.96 ERBB2 0 genome.wustl.edu 37 17 37872036 37872036 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 37872036 37872036 C A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.1357 p.L453M 0.955 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L 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 - - 70 0 0.00 84 8 8.60 ERGIC1 0 genome.wustl.edu 37 5 172377768 172377768 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 172377768 172377768 C T SNP ERGIC1 ENST00000393784 human ensembl 74_37 +1 known silent c.822 p.I274 1.000 NULL pfam_Erv_C - no_errors ERGIC1 HGNC ENSG00000113719 tier1 - - 86 0 0.00 61 12 16.44 FAM154A 0 genome.wustl.edu 37 9 18928367 18928367 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 9 18928367 18928367 A C SNP FAM154A ENST00000380534 human ensembl 74_37 -1 known missense c.1108 p.C370G 0.141 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 tier1 - - 34 0 0.00 36 7 16.28 FAM19A2 0 genome.wustl.edu 37 12 62147423 62147423 + Missense_Mutation SNP T T A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 62147423 62147423 T A SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.364 p.N122Y 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 tier1 - - 51 0 0.00 58 6 9.38 FAM227B 0 genome.wustl.edu 37 15 49620810 49620812 + In_Frame_Del DEL TGA TGA - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 49620810 49620812 TGA - DEL FAM227B ENST00000299338 human ensembl 74_37 -1 known in_frame_del c.1482_1480 p.S494in_frame_del 0.000:0.000:0.000 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 tier1 13 0 0.00 13 2 13.33 FAT3 0 genome.wustl.edu 37 11 92532253 92532253 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 92532253 92532253 A C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6074 p.K2025T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 48 0 0.00 30 14 31.82 FBLIM1 0 genome.wustl.edu 37 1 16103634 16103634 + RNA SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 16103634 16103634 G A SNP FBLIM1 ENST00000509138 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FBLIM1 HGNC ENSG00000162458 tier1 - - 269 0 0.00 201 41 16.94 FBN1 0 genome.wustl.edu 37 15 48826303 48826303 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 48826303 48826303 A C SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.836 p.L279R 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 358 0 0.00 296 50 14.45 FBN3 0 genome.wustl.edu 37 19 8159390 8159390 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 8159390 8159390 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.5845 p.E1949K 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 26 0 0.00 18 7 28.00 GCAT 0 genome.wustl.edu 37 22 38211688 38211688 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 22 38211688 38211688 C T SNP GCAT ENST00000248924 human ensembl 74_37 +1 known missense c.833 p.P278L 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 tier1 - - 108 0 0.00 64 19 22.89 GCG 0 genome.wustl.edu 37 2 163002170 163002170 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 163002170 163002170 C T SNP GCG ENST00000375497 human ensembl 74_37 -1 known missense c.272 p.R91H 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 tier1 rs35920035 - 215 0 0.00 193 14 6.76 GDA 0 genome.wustl.edu 37 9 74840638 74840638 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 9 74840638 74840638 T G SNP GDA ENST00000238018 human ensembl 74_37 +1 known missense c.760 p.L254V 0.008 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 tier1 - - 132 0 0.00 150 8 5.03 GDNF 0 genome.wustl.edu 37 5 37816045 37816045 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 37816045 37816045 T G SNP GDNF ENST00000326524 human ensembl 74_37 -1 known missense c.344 p.N115T 1.000 pirsf_GDNF pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF - no_errors GDNF HGNC ENSG00000168621 tier1 - - 79 0 0.00 105 7 6.25 GNL3L 0 genome.wustl.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 X 54578339 54578341 GAA - DEL GNL3L ENST00000336470 human ensembl 74_37 +1 known in_frame_del c.1113_1115 p.K375in_frame_del 0.999:1.000:1.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 tier1 39 0 0.00 49 5 9.26 GPATCH4 0 genome.wustl.edu 37 1 156568787 156568787 + Missense_Mutation SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 156568787 156568787 G T SNP GPATCH4 ENST00000438976 human ensembl 74_37 -1 known missense c.67 p.Q23K 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 tier1 - - 92 0 0.00 76 10 11.49 GRIA2 0 genome.wustl.edu 37 4 158282688 158282688 + Splice_Site SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 4 158282688 158282688 A C SNP GRIA2 ENST00000296526 human ensembl 74_37 +1 known splice_site c.2292-2 e14-2 1.000 - - - no_errors GRIA2 HGNC ENSG00000120251 tier1 - - 33 0 0.00 31 8 20.51 HAO1 0 genome.wustl.edu 37 20 7895047 7895047 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 20 7895047 7895047 C T SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known silent c.309 p.T103 0.467 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 tier1 - - 26 0 0.00 31 6 16.22 HAS1 0 genome.wustl.edu 37 19 52217231 52217231 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 52217231 52217231 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1207 p.R403W 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 tier1 rs140592950 - 29 0 0.00 33 4 10.81 HEATR5B 0 genome.wustl.edu 37 2 37265077 37265077 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 37265077 37265077 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.3137 p.A1046V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 78 0 0.00 44 8 15.38 HIST1H2BH 0 genome.wustl.edu 37 6 26252142 26252142 + Silent SNP G G C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 6 26252142 26252142 G C SNP HIST1H2BH ENST00000356350 human ensembl 74_37 +1 known silent c.264 p.S88 0.996 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BH HGNC ENSG00000197459 tier1 - - 111 0 0.00 97 7 6.73 HNRNPH3 0 genome.wustl.edu 37 10 70101401 70101401 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 70101401 70101401 G A SNP HNRNPH3 ENST00000265866 human ensembl 74_37 +1 known missense c.835 p.G279S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH3 HGNC ENSG00000096746 tier1 - - 83 0 0.00 67 11 14.10 HOXB4 0 genome.wustl.edu 37 17 46655265 46655265 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 46655265 46655265 G A SNP HOXB4 ENST00000332503 human ensembl 74_37 -1 known silent c.417 p.P139 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC ENSG00000182742 tier1 - - 73 0 0.00 37 12 24.49 HSPD1 0 genome.wustl.edu 37 2 198360018 198360018 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 198360018 198360018 C A SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known missense c.510 p.Q170H 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 tier1 - - 66 0 0.00 50 8 13.79 HSPH1 0 genome.wustl.edu 37 13 31715323 31715323 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 13 31715323 31715323 G A SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known missense c.1796 p.P599L 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 tier1 - - 69 0 0.00 62 11 15.07 HTRA3 0 genome.wustl.edu 37 4 8288324 8288324 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 4 8288324 8288324 C T SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known silent c.522 p.S174 0.998 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 tier1 - - 136 0 0.00 105 25 19.23 IFI30 0 genome.wustl.edu 37 19 18287995 18287995 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 18287995 18287995 G A SNP IFI30 ENST00000407280 human ensembl 74_37 +1 known missense c.529 p.E177K 0.000 NULL pfam_Interferon-induced_GILT - no_errors IFI30 HGNC ENSG00000216490 13 0 0.00 9 3 25.00 IGLL1 0 genome.wustl.edu 37 22 23915477 23915477 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 22 23915477 23915477 C T SNP IGLL1 ENST00000330377 human ensembl 74_37 -1 known silent c.618 p.T206 0.000 pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors IGLL1 HGNC ENSG00000128322 tier1 rs147356355 - 90 0 0.00 51 13 20.31 IL13RA1 0 genome.wustl.edu 37 X 117883716 117883716 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 X 117883716 117883716 G A SNP IL13RA1 ENST00000371666 human ensembl 74_37 +1 known missense c.463 p.D155N 0.995 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC ENSG00000131724 tier1 - - 124 0 0.00 63 47 42.73 IQGAP2 0 genome.wustl.edu 37 5 75969736 75969736 + RNA DEL T T - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 75969736 75969736 T - DEL IQGAP2 ENST00000512383 human ensembl 74_37 +1 known rna NULL NULL 0.900 - - - no_errors IQGAP2 HGNC ENSG00000145703 tier1 29 0 0.00 34 2 5.56 ITGAD 0 genome.wustl.edu 37 16 31425831 31425831 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 16 31425831 31425831 C T SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.2056 p.R686C 0.979 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 293 0 0.00 234 52 18.12 KCNQ3 0 genome.wustl.edu 37 8 133198392 133198392 + Silent SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 133198392 133198392 G T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.423 p.V141 0.907 prints_K_chnl_volt-dep_KCNQ3 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 36 0 0.00 43 6 12.24 KIAA0195 0 genome.wustl.edu 37 17 73493926 73493926 + Nonsense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 73493926 73493926 C T SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known nonsense c.3472 p.Q1158* 0.387 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 tier1 - - 156 0 0.00 107 19 15.08 KIAA1024 0 genome.wustl.edu 37 15 79748527 79748527 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 79748527 79748527 A C SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.38 p.K13T 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 tier1 - - 61 0 0.00 56 10 15.15 KIAA1984 0 genome.wustl.edu 37 9 139698993 139698993 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 9 139698993 139698993 C T SNP KIAA1984 ENST00000338005 human ensembl 74_37 +1 known missense c.706 p.R236C 0.714 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 26 0 0.00 32 2 5.88 KLF7 0 genome.wustl.edu 37 2 207945782 207945783 + RNA DEL TA TA - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 207945782 207945783 TA - DEL KLF7 ENST00000467833 human ensembl 74_37 -1 putative rna NULL NULL 0.958:0.994 - - - no_errors KLF7 HGNC ENSG00000118263 tier1 21 0 0.00 20 7 25.93 KLHL1 0 genome.wustl.edu 37 13 70456504 70456504 + Missense_Mutation SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 13 70456504 70456504 T C SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1138 p.M380V 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 64 0 0.00 82 16 16.33 KRIT1 0 genome.wustl.edu 37 7 91864944 91864944 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 91864944 91864944 G A SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known missense c.502 p.H168Y 1.000 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 tier1 - - 44 0 0.00 58 13 18.31 KRT28 0 genome.wustl.edu 37 17 38953199 38953199 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 38953199 38953199 A G SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known missense c.947 p.L316P 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 69 0 0.00 70 5 6.67 KRT82 0 genome.wustl.edu 37 12 52793795 52793795 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 52793795 52793795 C T SNP KRT82 ENST00000257974 human ensembl 74_37 -1 known missense c.916 p.E306K 0.999 pfam_IF pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT82 HGNC ENSG00000161850 tier1 - - 74 0 0.00 47 16 25.40 LAMC1 0 genome.wustl.edu 37 1 183097819 183097819 + Nonsense_Mutation SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 183097819 183097819 G T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known nonsense c.3214 p.E1072* 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 86 0 0.00 74 6 7.50 LHX4 0 genome.wustl.edu 37 1 180243539 180243539 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 180243539 180243539 C T SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.998 p.T333M 0.976 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 tier1 - - 264 0 0.00 265 37 12.25 LOC440040 0 genome.wustl.edu 37 11 49597964 49597964 + RNA SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 49597964 49597964 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 29 0 0.00 20 4 16.67 LRRC52 0 genome.wustl.edu 37 1 165513878 165513878 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 165513878 165513878 G A SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known silent c.345 p.S115 0.002 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 tier1 - - 150 0 0.00 159 26 14.05 LRRK2 0 genome.wustl.edu 37 12 40681293 40681293 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 40681293 40681293 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2641 p.S881A 0.305 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 88 0 0.00 59 7 10.61 LYVE1 0 genome.wustl.edu 37 11 10590070 10590070 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 10590070 10590070 A C SNP LYVE1 ENST00000256178 human ensembl 74_37 -1 known missense c.10 p.C4G 0.000 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link - no_errors LYVE1 HGNC ENSG00000133800 tier1 - - 44 0 0.00 29 7 19.44 LYVE1 0 genome.wustl.edu 37 11 10590071 10590071 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 10590071 10590071 C A SNP LYVE1 ENST00000256178 human ensembl 74_37 -1 known missense c.9 p.R3S 0.000 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link - no_errors LYVE1 HGNC ENSG00000133800 tier1 - - 43 0 0.00 30 6 16.67 MAGEB4 0 genome.wustl.edu 37 X 30261023 30261023 + Nonsense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 X 30261023 30261023 C A SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known nonsense c.771 p.Y257* 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 tier1 - - 35 0 0.00 22 18 45.00 MIR224 0 genome.wustl.edu 37 X 151127121 151127121 + RNA SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 X 151127121 151127121 T G SNP MIR224 ENST00000384889 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR224 HGNC ENSG00000207621 tier1 - - 45 0 0.00 47 41 46.07 MRGPRX1 0 genome.wustl.edu 37 11 18956352 18956352 + RNA SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 18956352 18956352 T C SNP MRGPRX1 ENST00000526914 human ensembl 74_37 -1 putative rna NULL NULL 0.034 - - - no_errors MRGPRX1 HGNC ENSG00000170255 tier1 - - 124 0 0.00 129 15 10.34 MSL3P1 0 genome.wustl.edu 37 2 234775380 234775380 + RNA SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 234775380 234775380 C T SNP MSL3P1 ENST00000438684 human ensembl 74_37 -1 known rna NULL NULL 0.237 - - - no_errors MSL3P1 HGNC ENSG00000224287 tier1 - - 17 0 0.00 15 7 31.82 MUC17 0 genome.wustl.edu 37 7 100682460 100682460 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 100682460 100682460 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.7763 p.S2588N 0.276 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 332 0 0.00 420 66 13.58 MYH13 0 genome.wustl.edu 37 17 10214533 10214533 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 10214533 10214533 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4543 p.D1515N 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 40 0 0.00 38 11 22.45 NACC2 0 genome.wustl.edu 37 9 138908118 138908118 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 9 138908118 138908118 C T SNP NACC2 ENST00000277554 human ensembl 74_37 -1 known silent c.1044 p.L348 1.000 NULL pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC2 HGNC ENSG00000148411 tier1 - - 73 0 0.00 36 15 29.41 NAPB 0 genome.wustl.edu 37 20 23360551 23360551 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 20 23360551 23360551 C T SNP NAPB ENST00000377026 human ensembl 74_37 -1 known missense c.688 p.E230K 1.000 NULL prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 tier1 - - 111 0 0.00 102 7 6.42 NCAM1 0 genome.wustl.edu 37 11 113141064 113141064 + Silent SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 113141064 113141064 A G SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known silent c.2256 p.K752 0.990 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 tier1 - - 59 0 0.00 59 5 7.81 NCOR2 0 genome.wustl.edu 37 12 124887058 124887059 + In_Frame_Ins INS - - GCT TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 124887058 124887059 - GCT INS NCOR2 ENST00000356219 human ensembl 74_37 -1 known in_frame_ins c.1532_1531 p.511in_frame_insQ 0.999:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 13 0 0.00 9 4 30.77 NFATC2 0 genome.wustl.edu 37 20 50048859 50048859 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 20 50048859 50048859 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.2467 p.G823R 0.991 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 93 0 0.00 86 22 20.37 NGDN 0 genome.wustl.edu 37 14 23945523 23945523 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 14 23945523 23945523 G A SNP NGDN ENST00000408901 human ensembl 74_37 +1 known missense c.620 p.R207H 0.999 NULL pfam_Sas10/Utp3/C1D - no_errors NGDN HGNC ENSG00000129460 tier1 - - 36 0 0.00 26 11 29.73 NOTCH4 0 genome.wustl.edu 37 6 32170088 32170088 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 6 32170088 32170088 C T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.3520 p.G1174R 0.308 pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 38 0 0.00 31 6 16.22 NPAP1 0 genome.wustl.edu 37 15 24923624 24923624 + Silent SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 24923624 24923624 A G SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.2610 p.Q870 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 68 0 0.00 46 9 16.36 NPIPP1 0 genome.wustl.edu 37 16 15198259 15198259 + RNA SNP T T A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 16 15198259 15198259 T A SNP NPIPP1 ENST00000534799 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NPIPP1 HGNC ENSG00000188599 tier1 - - 69 0 0.00 44 18 29.03 NPR1 0 genome.wustl.edu 37 1 153652166 153652166 + Missense_Mutation SNP G G C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 153652166 153652166 G C SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.582 p.E194D 0.997 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 tier1 - - 26 0 0.00 17 4 19.05 OGDHL 0 genome.wustl.edu 37 10 50955201 50955201 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 50955201 50955201 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known silent c.1041 p.R347 0.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 83 0 0.00 62 5 7.46 OMP 0 genome.wustl.edu 37 11 76814081 76814081 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 76814081 76814081 G A SNP OMP ENST00000529803 human ensembl 74_37 +1 known missense c.196 p.E66K 0.895 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 56 0 0.00 36 6 14.29 OR13G1 0 genome.wustl.edu 37 1 247835708 247835708 + Nonsense_Mutation SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 247835708 247835708 G T SNP OR13G1 ENST00000359688 human ensembl 74_37 -1 known nonsense c.636 p.C212* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR13G1 HGNC ENSG00000197437 tier1 - - 37 0 0.00 48 5 9.43 OR2T1 0 genome.wustl.edu 37 1 248569304 248569304 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 248569304 248569304 A C SNP OR2T1 ENST00000366474 human ensembl 74_37 +1 known missense c.9 p.Q3H 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T1 HGNC ENSG00000175143 tier1 - - 67 0 0.00 44 16 26.23 OR2W5 0 genome.wustl.edu 37 1 247654990 247654990 + RNA SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 247654990 247654990 G T SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors OR2W5 HGNC ENSG00000203664 tier1 - - 82 0 0.00 117 8 6.40 OR6B1 0 genome.wustl.edu 37 7 143701159 143701159 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 143701159 143701159 C T SNP OR6B1 ENST00000408922 human ensembl 74_37 +1 known missense c.70 p.R24W 0.122 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC ENSG00000221813 tier1 - - 100 0 0.00 88 10 10.20 OR8B12 0 genome.wustl.edu 37 11 124412903 124412903 + Silent SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 124412903 124412903 A C SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known silent c.648 p.S216 0.888 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B12 HGNC ENSG00000170953 tier1 - - 20 0 0.00 10 4 28.57 OSBPL6 0 genome.wustl.edu 37 2 179248887 179248887 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 179248887 179248887 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2009 p.R670H 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 rs146931219 - 285 0 0.00 241 59 19.60 P2RY14 0 genome.wustl.edu 37 3 150931377 150931377 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 3 150931377 150931377 A C SNP P2RY14 ENST00000309170 human ensembl 74_37 -1 known missense c.728 p.F243C 0.003 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY14 HGNC ENSG00000174944 tier1 - - 101 0 0.00 108 13 10.74 PABPC3 0 genome.wustl.edu 37 13 25670425 25670425 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 13 25670425 25670425 A C SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.89 p.K30T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 tier1 - - 59 0 0.00 54 16 22.54 PCDH15 0 genome.wustl.edu 37 10 56077056 56077056 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 56077056 56077056 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.851 p.A284V 0.985 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 77 0 0.00 66 8 10.81 PCDHB7 0 genome.wustl.edu 37 5 140554692 140554692 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 140554692 140554692 C A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2276 p.T759K 0.011 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 tier1 - - 126 0 0.00 135 11 7.53 PDE11A 0 genome.wustl.edu 37 2 178592453 178592453 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 178592453 178592453 C T SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.1976 p.R659Q 1.000 prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 tier1 - - 72 0 0.00 76 14 15.56 PDE3A 0 genome.wustl.edu 37 12 20523120 20523120 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 20523120 20523120 C T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.902 p.S301F 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 tier1 - - 34 0 0.00 35 6 14.63 PLD5 0 genome.wustl.edu 37 1 242451704 242451705 + Frame_Shift_Ins INS - - A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 242451704 242451705 - A INS PLD5 ENST00000536534 human ensembl 74_37 -1 known frame_shift_ins c.455_454 p.S152fs 1.000:1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 95 0 0.00 94 11 10.48 PLXDC2 0 genome.wustl.edu 37 10 20335934 20335934 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 20335934 20335934 G A SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known missense c.461 p.R154Q 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 tier1 - - 79 0 0.00 53 13 19.70 PMEL 0 genome.wustl.edu 37 12 56349564 56349564 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 56349564 56349564 C T SNP PMEL ENST00000360714 human ensembl 74_37 -1 known missense c.1555 p.G519R 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 tier1 rs199615476 - 46 0 0.00 19 6 23.08 POLR2A 0 genome.wustl.edu 37 17 7414819 7414819 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 7414819 7414819 C T SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.4013 p.T1338M 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 13 0 0.00 18 3 14.29 POU2F3 0 genome.wustl.edu 37 11 120178294 120178294 + Frame_Shift_Del DEL C C - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 120178294 120178294 C - DEL POU2F3 ENST00000260264 human ensembl 74_37 +1 known frame_shift_del c.882 p.R295fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 tier1 98 0 0.00 76 10 11.63 PPP1R9A 0 genome.wustl.edu 37 7 94540215 94540215 + Nonsense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 94540215 94540215 C T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known nonsense c.790 p.R264* 0.161 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 tier1 - - 34 0 0.00 60 8 11.76 PPP2R3C 0 genome.wustl.edu 37 14 35585935 35585935 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 14 35585935 35585935 T - DEL PPP2R3C ENST00000261475 human ensembl 74_37 -1 known frame_shift_del c.67 p.S23fs 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 tier1 65 0 0.00 39 3 7.14 PPT2 0 genome.wustl.edu 37 6 32125622 32125622 + Silent SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 6 32125622 32125622 C A SNP PPT2 ENST00000361568 human ensembl 74_37 +1 known silent c.649 p.R217 1.000 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT2 HGNC ENSG00000221988 26 0 0.00 22 4 15.38 PRB4 0 genome.wustl.edu 37 12 11461286 11461286 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 11461286 11461286 C A SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.631 p.G211C 0.005 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 tier1 - - 137 0 0.00 166 27 13.99 PSG6 0 genome.wustl.edu 37 19 43420469 43420469 + Missense_Mutation SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 43420469 43420469 T C SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.235 p.I79V 0.003 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 tier1 - - 318 0 0.00 272 50 15.43 PSG6 0 genome.wustl.edu 37 19 43420470 43420470 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 43420470 43420470 G A SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known silent c.234 p.Y78 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 tier1 - - 319 0 0.00 272 50 15.48 RANBP10 0 genome.wustl.edu 37 16 67763354 67763354 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 16 67763354 67763354 G A SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known missense c.1181 p.A394V 0.003 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 tier1 - - 29 0 0.00 30 5 14.29 RCOR2 0 genome.wustl.edu 37 11 63680345 63680346 + Frame_Shift_Ins INS - - G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 63680345 63680346 - G INS RCOR2 ENST00000301459 human ensembl 74_37 -1 known frame_shift_ins c.966_965 p.E323fs 0.307:0.991 superfamily_Homeodomain-like pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 tier1 34 0 0.00 21 2 8.70 RGS7 0 genome.wustl.edu 37 1 240975304 240975304 + Frame_Shift_Del DEL A A - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 240975304 240975304 A - DEL RGS7 ENST00000407727 human ensembl 74_37 -1 known frame_shift_del c.996 p.F332fs 0.995 superfamily_Regulat_G_prot_signal_superfam,prints_RGS_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 109 0 0.00 108 47 30.32 RNF213 0 genome.wustl.edu 37 17 78321786 78321786 + Silent SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 78321786 78321786 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.9651 p.V3217 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 36 0 0.00 26 4 13.33 RNF43 0 genome.wustl.edu 37 17 56492791 56492792 + Frame_Shift_Del DEL CT CT - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 56492791 56492792 CT - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.148_147 p.R49fs 1.000:1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 120 0 0.00 59 18 23.38 RNF6 0 genome.wustl.edu 37 13 26787968 26787968 + Missense_Mutation SNP T T A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 13 26787968 26787968 T A SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known missense c.2051 p.N684I 0.024 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 tier1 - - 65 0 0.00 71 12 14.46 RP1L1 0 genome.wustl.edu 37 8 10467622 10467623 + In_Frame_Ins INS - - CTC TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 10467622 10467623 - CTC INS RP1L1 ENST00000382483 human ensembl 74_37 -1 known in_frame_ins c.3986_3985 p.1329in_frame_insG 0.001:0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 19 0 0.00 46 7 13.21 RPGRIP1L 0 genome.wustl.edu 37 16 53691525 53691525 + Frame_Shift_Del DEL T T - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 16 53691525 53691525 T - DEL RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known frame_shift_del c.1421 p.N474fs 1.000 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 tier1 40 0 0.00 32 2 5.88 RPL10L 0 genome.wustl.edu 37 14 47120347 47120347 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 14 47120347 47120347 T G SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.593 p.K198T 1.000 NULL pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 tier1 - - 77 0 0.00 47 22 31.88 SACS 0 genome.wustl.edu 37 13 23909221 23909222 + Frame_Shift_Ins INS - - T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 13 23909221 23909222 - T INS SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_ins c.8794_8793 p.R2931fs 0.997:0.967 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 124 0 0.00 150 20 11.76 SCN10A 0 genome.wustl.edu 37 3 38768275 38768275 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 3 38768275 38768275 C A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2909 p.S970I 0.003 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 40 0 0.00 56 9 13.85 SEMA7A 0 genome.wustl.edu 37 15 74703234 74703234 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 74703234 74703234 G A SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known missense c.1732 p.R578C 1.000 pfscan_Ig-like_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA7A HGNC ENSG00000138623 tier1 - - 122 0 0.00 92 22 19.30 SIAH2 0 genome.wustl.edu 37 3 150460088 150460088 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 3 150460088 150460088 C T SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known missense c.815 p.R272Q 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 tier1 - - 57 0 0.00 60 5 7.69 SLC22A8 0 genome.wustl.edu 37 11 62782146 62782146 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 62782146 62782146 G A SNP SLC22A8 ENST00000336232 human ensembl 74_37 -1 known silent c.285 p.C95 1.000 pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 tier1 - - 170 0 0.00 109 11 9.17 SLC28A2 0 genome.wustl.edu 37 15 45554245 45554245 + Missense_Mutation SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 45554245 45554245 G T SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known missense c.203 p.S68I 0.200 NULL pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 tier1 - - 143 0 0.00 115 16 12.21 SLC39A12 0 genome.wustl.edu 37 10 18331694 18331694 + Missense_Mutation SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 18331694 18331694 T C SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.2008 p.F670L 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 100 0 0.00 100 11 9.91 SMARCB1 0 genome.wustl.edu 37 22 24133968 24133968 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 22 24133968 24133968 G A SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.119 p.R40Q 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 tier1 - - 169 0 0.00 126 27 17.53 SPSB2 0 genome.wustl.edu 37 12 6982049 6982049 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 6982049 6982049 A G SNP SPSB2 ENST00000523102 human ensembl 74_37 -1 known missense c.17 p.L6P 1.000 NULL pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB2 HGNC ENSG00000111671 tier1 - - 33 0 0.00 37 6 13.95 SPTA1 0 genome.wustl.edu 37 1 158589973 158589973 + Missense_Mutation SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 1 158589973 158589973 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6404 p.S2135Y 0.785 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 149 0 0.00 149 12 7.45 SPTBN4 0 genome.wustl.edu 37 19 41056160 41056160 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 41056160 41056160 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.4601 p.R1534Q 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 23 0 0.00 23 4 14.81 SRL 0 genome.wustl.edu 37 16 4242551 4242551 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 16 4242551 4242551 A G SNP SRL ENST00000399609 human ensembl 74_37 -1 known missense c.1025 p.I342T 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors SRL HGNC ENSG00000185739 tier1 - - 172 0 0.00 157 10 5.99 STARD5 0 genome.wustl.edu 37 15 81611765 81611765 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 81611765 81611765 G A SNP STARD5 ENST00000302824 human ensembl 74_37 -1 known silent c.315 p.S105 0.139 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD5 HGNC ENSG00000172345 tier1 - - 252 0 0.00 206 26 11.21 STK11IP 0 genome.wustl.edu 37 2 220476497 220476497 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 220476497 220476497 A G SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel missense c.2276 p.K759R 0.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 tier1 - - 40 0 0.00 28 4 12.50 STK31 0 genome.wustl.edu 37 7 23872024 23872025 + RNA INS - - TTTG TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 23872024 23872025 - TTTG INS STK31 ENST00000405627 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.017 - - - no_errors STK31 HGNC ENSG00000196335 tier1 26 0 0.00 28 9 24.32 SVEP1 0 genome.wustl.edu 37 9 113243711 113243711 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 9 113243711 113243711 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.2176 p.P726S 1.000 pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 24 0 0.00 15 7 31.82 TAL2 0 genome.wustl.edu 37 9 108424911 108424911 + Missense_Mutation SNP G G C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 9 108424911 108424911 G C SNP TAL2 ENST00000334077 human ensembl 74_37 +1 known missense c.134 p.R45P 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL2 HGNC ENSG00000186051 tier1 - - 37 0 0.00 26 7 21.21 TERT 0 genome.wustl.edu 37 5 1268653 1268653 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 1268653 1268653 G A SNP TERT ENST00000310581 human ensembl 74_37 -1 known missense c.2564 p.A855V 0.000 pfam_RVT,pfscan_RVT pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC ENSG00000164362 tier1 - - 55 0 0.00 50 5 9.09 TET1 0 genome.wustl.edu 37 10 70451287 70451287 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 10 70451287 70451287 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.6127 p.R2043C 0.996 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 64 0 0.00 56 5 8.20 THSD4 0 genome.wustl.edu 37 15 72057436 72057436 + Silent SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 15 72057436 72057436 G T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known silent c.2667 p.V889 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 tier1 - - 98 0 0.00 77 10 11.49 TLR7 0 genome.wustl.edu 37 X 12906379 12906379 + Missense_Mutation SNP G G T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 X 12906379 12906379 G T SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known missense c.2752 p.D918Y 0.997 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 tier1 - - 87 0 0.00 57 23 28.75 TMPRSS4 0 genome.wustl.edu 37 11 117973941 117973941 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 117973941 117973941 A G SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known missense c.283 p.S95G 0.127 superfamily_LDrepeatLR_classA_rpt,pfscan_SRCR pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 tier1 - - 123 0 0.00 89 17 16.04 TNP1 0 genome.wustl.edu 37 2 217724661 217724661 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 217724661 217724661 A G SNP TNP1 ENST00000236979 human ensembl 74_37 -1 known missense c.97 p.Y33H 1.000 pfam_Nuclear_transition_prot1 pfam_Nuclear_transition_prot1 - no_errors TNP1 HGNC ENSG00000118245 tier1 - - 146 0 0.00 118 26 18.06 TNRC18 0 genome.wustl.edu 37 7 5410372 5410372 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 5410372 5410372 T G SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.3853 p.S1285R 0.012 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 13 0 0.00 14 2 12.50 TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 - - 42 0 0.00 25 12 32.43 TRAK2 0 genome.wustl.edu 37 2 202252501 202252501 + Missense_Mutation SNP T T A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 202252501 202252501 T A SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.1621 p.I541F 0.308 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 tier1 - - 109 0 0.00 122 12 8.96 TRPM2 0 genome.wustl.edu 37 21 45838403 45838403 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 21 45838403 45838403 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.3426 p.Q1142 0.953 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 tier1 - - 149 0 0.00 109 29 21.01 TTN 0 genome.wustl.edu 37 2 179666973 179666973 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 2 179666973 179666973 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.187 p.A63T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 - - 86 0 0.00 61 25 29.07 ULK4 0 genome.wustl.edu 37 3 41795958 41795958 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 3 41795958 41795958 C T SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.2216 p.R739H 0.676 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 - - 98 0 0.00 106 12 10.17 UNC5A 0 genome.wustl.edu 37 5 176301067 176301067 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 176301067 176301067 C T SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.985 p.R329W 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 tier1 rs150032228 - 46 0 0.00 22 6 21.43 VSIG10 0 genome.wustl.edu 37 12 118519948 118519948 + Silent SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 12 118519948 118519948 G A SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known silent c.648 p.T216 0.991 smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 tier1 - - 37 0 0.00 18 8 30.77 WEE1 0 genome.wustl.edu 37 11 9606989 9606989 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 11 9606989 9606989 G A SNP WEE1 ENST00000450114 human ensembl 74_37 +1 known missense c.1385 p.G462D 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,pirsf_Wee1-like_protein_kinase,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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE1 HGNC ENSG00000166483 tier1 - - 147 0 0.00 85 22 20.56 WNK3 0 genome.wustl.edu 37 X 54259259 54259259 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 X 54259259 54259259 T G SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.4823 p.N1608T 0.947 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 tier1 - - 49 0 0.00 41 6 12.77 WNT9B 0 genome.wustl.edu 37 17 44952646 44952646 + Missense_Mutation SNP T T C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 17 44952646 44952646 T C SNP WNT9B ENST00000290015 human ensembl 74_37 +1 known missense c.514 p.F172L 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT9B HGNC ENSG00000158955 tier1 - - 32 0 0.00 25 9 26.47 XIST 0 genome.wustl.edu 37 X 73047073 73047073 + RNA SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 X 73047073 73047073 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 89 0 0.00 57 32 35.56 YEATS2 0 genome.wustl.edu 37 3 183490334 183490334 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 3 183490334 183490334 G A SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.2189 p.S730N 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 tier1 - - 35 0 0.00 43 8 15.69 YIPF5 0 genome.wustl.edu 37 5 143540022 143540022 + Missense_Mutation SNP A A C TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 143540022 143540022 A C SNP YIPF5 ENST00000274496 human ensembl 74_37 -1 known missense c.713 p.L238R 1.000 NULL pfam_Yip1 - no_errors YIPF5 HGNC ENSG00000145817 tier1 - - 100 0 0.00 70 23 24.73 YIPF5 0 genome.wustl.edu 37 5 143540025 143540025 + Missense_Mutation SNP T T G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 143540025 143540025 T G SNP YIPF5 ENST00000274496 human ensembl 74_37 -1 known missense c.710 p.Q237P 1.000 NULL pfam_Yip1 - no_errors YIPF5 HGNC ENSG00000145817 tier1 - - 95 0 0.00 71 21 22.83 YKT6 0 genome.wustl.edu 37 7 44240765 44240765 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 7 44240765 44240765 A G SNP YKT6 ENST00000223369 human ensembl 74_37 +1 known missense c.31 p.K11E 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC ENSG00000106636 tier1 - - 29 0 0.00 31 7 18.42 ZNF350 0 genome.wustl.edu 37 19 52468850 52468850 + Nonsense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 52468850 52468850 C A SNP ZNF350 ENST00000243644 human ensembl 74_37 -1 known nonsense c.856 p.G286* 0.993 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 ZNF350 HGNC ENSG00000256683 tier1 - - 192 0 0.00 153 28 15.38 ZNF354C 0 genome.wustl.edu 37 5 178506074 178506074 + Missense_Mutation SNP A A G TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 5 178506074 178506074 A G SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.641 p.K214R 0.053 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 tier1 - - 61 0 0.00 57 10 14.93 ZNF418 0 genome.wustl.edu 37 19 58438416 58438416 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 58438416 58438416 C T SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known missense c.1133 p.C378Y 0.002 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 ZNF418 HGNC ENSG00000196724 tier1 - - 155 0 0.00 123 17 12.14 ZNF516 0 genome.wustl.edu 37 18 74092014 74092014 + Missense_Mutation SNP C C T TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 18 74092014 74092014 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.2056 p.V686I 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 tier1 - - 38 0 0.00 22 15 40.54 ZNF546 0 genome.wustl.edu 37 19 40521503 40521503 + Missense_Mutation SNP C C A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 40521503 40521503 C A SNP ZNF546 ENST00000347077 human ensembl 74_37 +1 known missense c.2326 p.P776T 1.000 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 ZNF546 HGNC ENSG00000187187 tier1 - - 49 0 0.00 56 6 9.68 ZNF630 0 genome.wustl.edu 37 X 47918005 47918005 + Frame_Shift_Del DEL A A - TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 X 47918005 47918005 A - DEL ZNF630 ENST00000409324 human ensembl 74_37 -1 known frame_shift_del c.1826 p.F609fs 0.001 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 ZNF630 HGNC ENSG00000221994 tier1 24 0 0.00 30 2 6.25 ZNF646 0 genome.wustl.edu 37 16 31092389 31092389 + Missense_Mutation SNP G G A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 16 31092389 31092389 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.4744 p.A1582T 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 tier1 - - 83 0 0.00 84 17 16.83 ZNF705G 0 genome.wustl.edu 37 8 7217806 7217806 + Missense_Mutation SNP T T A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 8 7217806 7217806 T A SNP ZNF705G ENST00000400078 human ensembl 74_37 -1 known missense c.188 p.K63I 0.586 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF705G HGNC ENSG00000215372 tier1 - - 125 0 0.00 140 14 9.09 ZNF814 0 genome.wustl.edu 37 19 58384382 58384382 + Missense_Mutation SNP T T A TCGA-VQ-A8DT-01A-11D-A364-08 TCGA-VQ-A8DT-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0614ac93-e0d6-4f2f-8635-db173e6e9862 b13b2c7f-f980-4c53-b76d-c8dc4ee86321 19 58384382 58384382 T A SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.2376 p.R792S 0.010 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 ZNF814 HGNC ENSG00000204514 tier1 - - 36 0 0.00 38 7 15.56