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 ABCA12 0 genome.wustl.edu 37 2 215910676 215910676 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 215910676 215910676 A C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.757 p.F253V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 89 0 0.00 60 24 28.57 ABCA5 0 genome.wustl.edu 37 17 67267322 67267322 + Frame_Shift_Del DEL T T - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 17 67267322 67267322 T - DEL ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_del c.2876 p.N959fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 tier1 80 0 0.00 41 15 26.79 ABCB4 0 genome.wustl.edu 37 7 87035742 87035742 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 87035742 87035742 A G SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known silent c.3369 p.S1123 0.968 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 - - 237 0 0.00 110 38 25.68 ABCC9 0 genome.wustl.edu 37 12 22089503 22089503 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 22089503 22089503 A C SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.106 p.F36V 1.000 prints_Sulphorea_rcpt pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 96 0 0.00 41 23 35.94 ACADL 0 genome.wustl.edu 37 2 211082804 211082804 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 211082804 211082804 T G SNP ACADL ENST00000233710 human ensembl 74_37 -1 known missense c.256 p.S86R 1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ENSG00000115361 tier1 - - 76 0 0.00 33 8 19.51 ACSS3 0 genome.wustl.edu 37 12 81624912 81624912 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 81624912 81624912 T G SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1591 p.F531V 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 73 0 0.00 27 15 35.71 ACTN2 0 genome.wustl.edu 37 1 236914899 236914899 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 236914899 236914899 A C SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1786 p.S596R 0.564 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 82 0 0.00 37 16 30.19 ADAM2 0 genome.wustl.edu 37 8 39624760 39624760 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 39624760 39624760 A C SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.1223 p.L408R 0.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin 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 ADAM2 HGNC ENSG00000104755 tier1 - - 177 0 0.00 95 28 22.76 ADAMTS20 0 genome.wustl.edu 37 12 43826214 43826214 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 43826214 43826214 A C SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.2989 p.F997V 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 98 0 0.00 23 21 47.73 AFF2 0 genome.wustl.edu 37 X 148037276 148037276 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 148037276 148037276 A C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1701 p.E567D 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 246 0 0.00 63 74 54.01 ALPP 0 genome.wustl.edu 37 2 233244591 233244591 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 233244591 233244591 G A SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.602 p.R201H 0.000 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 ALPP HGNC ENSG00000163283 tier1 - - 132 0 0.00 46 20 30.30 AMPH 0 genome.wustl.edu 37 7 38514952 38514952 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 38514952 38514952 T C SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.569 p.E190G 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 tier1 - - 43 0 0.00 24 5 17.24 AR 0 genome.wustl.edu 37 X 66765718 66765718 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 66765718 66765718 T G SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.730 p.S244A 1.000 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 40 0 0.00 8 11 57.89 ARHGAP24 0 genome.wustl.edu 37 4 86643070 86643070 + Silent SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 86643070 86643070 T G SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known silent c.213 p.S71 0.019 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 tier1 - - 162 0 0.00 83 39 31.97 ARID2 0 genome.wustl.edu 37 12 46245027 46245027 + Nonsense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 46245027 46245027 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known nonsense c.3121 p.Q1041* 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 tier1 - - 87 0 0.00 75 19 20.21 BCAS2 0 genome.wustl.edu 37 1 115118221 115118221 + Missense_Mutation SNP C C G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 115118221 115118221 C G SNP BCAS2 ENST00000369541 human ensembl 74_37 -1 known missense c.409 p.V137L 1.000 pfam_SPF27 pfam_SPF27 - no_errors BCAS2 HGNC ENSG00000116752 tier1 - - 110 0 0.00 67 17 20.24 BCL9 0 genome.wustl.edu 37 1 147092483 147092484 + Frame_Shift_Del DEL TG TG - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 147092483 147092484 TG - DEL BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_del c.2522_2523 p.L841fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 114 0 0.00 43 8 15.69 BCL9 0 genome.wustl.edu 37 1 147092485 147092485 + Missense_Mutation SNP G G C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 147092485 147092485 G C SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.2524 p.G842R 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 111 0 0.00 43 8 15.69 BCL9 0 genome.wustl.edu 37 1 147092487 147092487 + Silent SNP G G C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 147092487 147092487 G C SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.2526 p.G842 0.967 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 111 0 0.00 47 8 14.29 BMP10 0 genome.wustl.edu 37 2 69093206 69093206 + Missense_Mutation SNP G G T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 69093206 69093206 G T SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known missense c.832 p.Q278K 0.977 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 tier1 - - 89 0 0.00 39 12 23.53 BMP6 0 genome.wustl.edu 37 6 7727523 7727525 + In_Frame_Del DEL AGC AGC - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 7727523 7727525 AGC - DEL BMP6 ENST00000283147 human ensembl 74_37 +1 known in_frame_del c.335_337 p.Q116in_frame_del 0.925:0.919:0.908 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 tier1 34 0 0.00 9 2 18.18 BMPR1A 0 genome.wustl.edu 37 10 88683357 88683357 + Nonsense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 88683357 88683357 C T SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known nonsense c.1480 p.R494* 0.843 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 - no_errors BMPR1A HGNC ENSG00000107779 tier1 - - 120 0 0.00 84 20 19.23 BPIFB6 0 genome.wustl.edu 37 20 31627172 31627172 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 20 31627172 31627172 A C SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.920 p.K307T 0.774 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 tier1 - - 208 0 0.00 100 21 17.36 BRINP1 0 genome.wustl.edu 37 9 121971043 121971043 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 121971043 121971043 T G SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1099 p.S367R 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 94 0 0.00 42 14 25.00 BRSK1 0 genome.wustl.edu 37 19 55815948 55815948 + Frame_Shift_Del DEL G G - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 55815948 55815948 G - DEL BRSK1 ENST00000590333 human ensembl 74_37 +1 known frame_shift_del c.1425 p.A477fs 0.025 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 tier1 41 0 0.00 35 2 5.41 C10orf12 0 genome.wustl.edu 37 10 98742233 98742233 + Silent SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 98742233 98742233 C A SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known silent c.1086 p.P362 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 tier1 - - 160 0 0.00 69 29 29.59 C10orf12 0 genome.wustl.edu 37 10 98742242 98742242 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 98742242 98742242 A G SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known silent c.1095 p.E365 0.037 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 tier1 - - 164 0 0.00 68 27 28.42 C19orf45 0 genome.wustl.edu 37 19 7571038 7571038 + Silent SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 7571038 7571038 G A SNP C19orf45 ENST00000361664 human ensembl 74_37 +1 known silent c.1194 p.P398 0.000 NULL NULL - no_errors C19orf45 HGNC ENSG00000198723 tier1 - - 56 0 0.00 23 8 25.81 C1QTNF2 0 genome.wustl.edu 37 5 159776530 159776530 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 159776530 159776530 T C SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known missense c.638 p.K213R 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 tier1 - - 168 0 0.00 85 38 30.89 C1orf173 0 genome.wustl.edu 37 1 75037017 75037017 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 75037017 75037017 A G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known silent c.4377 p.T1459 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 169 0 0.00 90 30 24.79 C1orf94 0 genome.wustl.edu 37 1 34663275 34663275 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 34663275 34663275 A C SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.770 p.K257T 0.971 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 tier1 - - 77 0 0.00 43 10 18.87 C5orf42 0 genome.wustl.edu 37 5 37183697 37183697 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 37183697 37183697 T G SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.4586 p.K1529T 0.122 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 80 0 0.00 48 13 21.31 C9orf173 0 genome.wustl.edu 37 9 140147570 140147570 + Frame_Shift_Del DEL G G - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 140147570 140147570 G - DEL C9orf173 ENST00000388931 human ensembl 74_37 +1 known frame_shift_del c.816 p.N273fs 0.000 NULL NULL - no_errors C9orf173 HGNC ENSG00000197768 tier1 77 0 0.00 15 2 11.76 CACNA1A 0 genome.wustl.edu 37 19 13563736 13563736 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 13563736 13563736 A C SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.493 p.L165V 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 228 0 0.00 134 53 28.34 CACNA1E 0 genome.wustl.edu 37 1 181680121 181680121 + Frame_Shift_Del DEL A A - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 181680121 181680121 A - DEL CACNA1E ENST00000367573 human ensembl 74_37 +1 known frame_shift_del c.1087 p.N363fs 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 126 0 0.00 34 17 33.33 CADM1 0 genome.wustl.edu 37 11 115099940 115099940 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 115099940 115099940 A C SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.614 p.L205R 1.000 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 tier1 - - 132 0 0.00 83 22 20.75 CALB1 0 genome.wustl.edu 37 8 91094295 91094295 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 91094295 91094295 A G SNP CALB1 ENST00000265431 human ensembl 74_37 -1 known silent c.115 p.L39 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALB1 HGNC ENSG00000104327 tier1 - - 325 0 0.00 159 49 23.56 CALD1 0 genome.wustl.edu 37 7 134618305 134618305 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 134618305 134618305 A C SNP CALD1 ENST00000361675 human ensembl 74_37 +1 novel missense c.785 p.K262T 0.885 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 tier1 - - 40 0 0.00 24 13 35.14 CAPZA3 0 genome.wustl.edu 37 12 18891330 18891330 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 18891330 18891330 T G SNP CAPZA3 ENST00000317658 human ensembl 74_37 +1 known missense c.128 p.L43R 0.992 pfam_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA3 HGNC ENSG00000177938 tier1 - - 108 0 0.00 41 38 48.10 CBLN2 0 genome.wustl.edu 37 18 70205481 70205481 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 70205481 70205481 A C SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.605 p.L202R 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 tier1 - - 209 0 0.00 113 26 18.71 CCDC129 0 genome.wustl.edu 37 7 31690798 31690798 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 31690798 31690798 A C SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2704 p.S902R 1.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 tier1 - - 126 0 0.00 66 24 26.67 CCR4 0 genome.wustl.edu 37 3 32995241 32995241 + Silent SNP G G C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 32995241 32995241 G C SNP CCR4 ENST00000330953 human ensembl 74_37 +1 known silent c.327 p.L109 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt - no_errors CCR4 HGNC ENSG00000183813 tier1 - - 385 0 0.00 189 67 26.17 CDH10 0 genome.wustl.edu 37 5 24487941 24487941 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 24487941 24487941 A C SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.2198 p.L733R 0.991 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 200 0 0.00 108 8 6.90 CDH2 0 genome.wustl.edu 37 18 25532220 25532220 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 25532220 25532220 A G SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.2618 p.L873P 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 196 0 0.00 80 32 28.32 CDH2 0 genome.wustl.edu 37 18 25568542 25568542 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 25568542 25568542 A G SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1687 p.S563P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 52 0 0.00 30 8 21.05 CDK14 0 genome.wustl.edu 37 7 90547021 90547021 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 90547021 90547021 T G SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.808 p.L270V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 tier1 - - 154 0 0.00 89 27 23.28 CHRM2 0 genome.wustl.edu 37 7 136700565 136700565 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 136700565 136700565 A G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.953 p.E318G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 88 0 0.00 54 13 19.40 CHST8 0 genome.wustl.edu 37 19 34180142 34180142 + RNA SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 34180142 34180142 A G SNP CHST8 ENST00000604556 human ensembl 74_37 +1 putative rna NULL NULL 0.464 - - - no_errors CHST8 HGNC ENSG00000124302 tier1 - - 89 0 0.00 35 19 35.19 CLCNKB 0 genome.wustl.edu 37 1 16374511 16374511 + Missense_Mutation SNP G G T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 16374511 16374511 G T SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.470 p.C157F 0.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 tier1 - - 85 0 0.00 38 8 17.39 CMPK2 0 genome.wustl.edu 37 2 6991608 6991608 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 6991608 6991608 A C SNP CMPK2 ENST00000404168 human ensembl 74_37 -1 putative missense c.1199 p.L400R 1.000 pirsf_UMP-CMP_kinase_mit superfamily_P-loop_NTPase,pirsf_UMP-CMP_kinase_mit - no_errors CMPK2 HGNC ENSG00000134326 tier1 - - 64 0 0.00 27 11 28.95 CNTN4 0 genome.wustl.edu 37 3 2777925 2777925 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 2777925 2777925 T C SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.82 p.F28L 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 322 0 0.00 165 63 27.63 COL12A1 0 genome.wustl.edu 37 6 75858074 75858074 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 75858074 75858074 T G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4287 p.E1429D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 124 0 0.00 53 19 26.39 COL24A1 0 genome.wustl.edu 37 1 86437066 86437066 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 86437066 86437066 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2375 p.G792E 0.989 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 86 0 0.00 43 11 20.37 COL5A3 0 genome.wustl.edu 37 19 10083625 10083625 + Silent SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 10083625 10083625 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.3744 p.P1248 0.239 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 44 0 0.00 13 8 38.10 CPED1 0 genome.wustl.edu 37 7 120629776 120629776 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 120629776 120629776 C T SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.101 p.T34I 0.990 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 tier1 - - 116 0 0.00 55 32 36.78 CPNE8 0 genome.wustl.edu 37 12 39087498 39087498 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 39087498 39087498 T G SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.1104 p.K368N 0.990 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 197 0 0.00 115 38 24.84 CPS1 0 genome.wustl.edu 37 2 211542621 211542621 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 211542621 211542621 T G SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.4433 p.L1478R 1.000 superfamily_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 405 0 0.00 177 76 30.04 CRMP1 0 genome.wustl.edu 37 4 5827233 5827233 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 5827233 5827233 A G SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1957 p.F653L 1.000 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 140 0 0.00 39 13 25.00 CSMD1 0 genome.wustl.edu 37 8 3063037 3063037 + Frame_Shift_Del DEL G G - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 3063037 3063037 G - DEL CSMD1 ENST00000520002 human ensembl 74_37 -1 known frame_shift_del c.4976 p.P1659fs 0.998 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 37 0 0.00 20 5 20.00 CSMD3 0 genome.wustl.edu 37 8 113650961 113650961 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 113650961 113650961 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.3490 p.S1164P 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD3 HGNC ENSG00000164796 tier1 - - 118 0 0.00 46 32 40.51 CSRNP2 0 genome.wustl.edu 37 12 51457823 51457825 + In_Frame_Del DEL CTC CTC - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 51457823 51457825 CTC - DEL CSRNP2 ENST00000228515 human ensembl 74_37 -1 known in_frame_del c.1338_1336 p.E446in_frame_del 1.000:1.000:1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP2 HGNC ENSG00000110925 tier1 58 0 0.00 40 12 23.08 CTBP1-AS2 0 genome.wustl.edu 37 4 1244348 1244348 + RNA SNP G G T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 1244348 1244348 G T SNP CTBP1-AS2 ENST00000357591 human ensembl 74_37 +1 known rna NULL NULL 0.040 - - - no_errors CTBP1-AS2 HGNC ENSG00000196810 tier1 - - 212 0 0.00 78 20 20.41 CTNNA3 0 genome.wustl.edu 37 10 67748510 67748510 + Silent SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 67748510 67748510 C T SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known silent c.2205 p.A735 0.990 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 tier1 - - 129 0 0.00 77 10 11.49 CUBN 0 genome.wustl.edu 37 10 17127597 17127597 + Silent SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 17127597 17127597 A C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.2109 p.P703 0.579 superfamily_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 183 0 0.00 110 40 26.67 DCAF12L1 0 genome.wustl.edu 37 X 125685200 125685200 + Nonstop_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 125685200 125685200 T G SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known nonstop c.1392 p.*464Y 0.927 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 60 0 0.00 17 20 54.05 DCBLD2 0 genome.wustl.edu 37 3 98568438 98568438 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 98568438 98568438 T G SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.438 p.K146N 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 tier1 - - 51 0 0.00 45 7 13.46 DCLK1 0 genome.wustl.edu 37 13 36383190 36383190 + Silent SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 36383190 36383190 A C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known silent c.1731 p.T577 0.924 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 84 0 0.00 41 18 30.51 DCSTAMP 0 genome.wustl.edu 37 8 105361682 105361682 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 105361682 105361682 T C SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.902 p.L301P 0.057 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 311 0 0.00 159 44 21.67 DDIT4L 0 genome.wustl.edu 37 4 101108876 101108876 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 101108876 101108876 T G SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.540 p.K180N 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 tier1 - - 143 0 0.00 39 20 33.90 DDX60 0 genome.wustl.edu 37 4 169194500 169194500 + Missense_Mutation SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 169194500 169194500 T A SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.2504 p.N835I 0.014 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 - - 96 0 0.00 46 16 25.81 DENND2A 0 genome.wustl.edu 37 7 140301758 140301758 + Missense_Mutation SNP A A T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 140301758 140301758 A T SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.440 p.L147H 0.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 162 0 0.00 88 7 7.29 DENND4A 0 genome.wustl.edu 37 15 65964215 65964215 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 65964215 65964215 G A SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.4376 p.S1459L 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 tier1 - - 117 0 0.00 69 21 23.33 DKK1 0 genome.wustl.edu 37 10 54074448 54074448 + RNA SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 54074448 54074448 T C SNP DKK1 ENST00000467359 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DKK1 HGNC ENSG00000107984 tier1 - - 70 0 0.00 30 11 26.83 DLX5 0 genome.wustl.edu 37 7 96651485 96651485 + Silent SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 96651485 96651485 C T SNP DLX5 ENST00000486603 human ensembl 74_37 -1 putative silent c.552 p.A184 0.001 smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DLX5 HGNC ENSG00000105880 tier1 - - 160 0 0.00 58 14 19.44 DNAH5 0 genome.wustl.edu 37 5 13871771 13871771 + Missense_Mutation SNP G G C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 13871771 13871771 G C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.3500 p.S1167C 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 DNAH5 HGNC ENSG00000039139 tier1 - - 132 0 0.00 64 18 21.95 DRGX 0 genome.wustl.edu 37 10 50594753 50594753 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 50594753 50594753 T G SNP DRGX ENST00000434016 human ensembl 74_37 -1 known missense c.401 p.K134T 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DRGX HGNC ENSG00000165606 tier1 - - 80 0 0.00 37 9 19.57 DSEL 0 genome.wustl.edu 37 18 65180266 65180266 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 65180266 65180266 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1610 p.K537R 0.999 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 124 0 0.00 80 6 6.98 DSEL 0 genome.wustl.edu 37 18 65180462 65180462 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 65180462 65180462 T G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1414 p.S472R 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 136 0 0.00 55 24 30.38 DSEL 0 genome.wustl.edu 37 18 65180692 65180692 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 65180692 65180692 A C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1184 p.L395R 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 151 0 0.00 76 35 31.25 EDARADD 0 genome.wustl.edu 37 1 236645592 236645592 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 236645592 236645592 A C SNP EDARADD ENST00000334232 human ensembl 74_37 +1 known missense c.291 p.K97N 0.015 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDARADD HGNC ENSG00000186197 tier1 - - 90 0 0.00 44 24 35.29 ELMO1 0 genome.wustl.edu 37 7 37252963 37252963 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 37252963 37252963 T C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.931 p.T311A 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 144 0 0.00 54 34 38.64 ELMO1 0 genome.wustl.edu 37 7 37264616 37264616 + Missense_Mutation SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 37264616 37264616 T A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.569 p.K190M 1.000 pfam_DUF3361,superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 57 0 0.00 29 10 25.64 ENAM 0 genome.wustl.edu 37 4 71507830 71507830 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 71507830 71507830 A C SNP ENAM ENST00000396073 human ensembl 74_37 +1 known missense c.687 p.E229D 0.893 NULL NULL - no_errors ENAM HGNC ENSG00000132464 tier1 - - 207 0 0.00 93 44 31.88 ENSG00000180574 0 genome.wustl.edu 37 12 10659508 10659508 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 10659508 10659508 T G SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known missense c.1007 p.L336R 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 195 0 0.00 107 43 28.67 ENSG00000221424 0 genome.wustl.edu 37 3 15176024 15176024 + RNA SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 15176024 15176024 T G SNP ENSG00000221424 ENST00000408497 human ensembl 74_37 -1 novel rna NULL NULL 0.083 - - - no_errors AC090954.1 Clone_based_ensembl_gene ENSG00000221424 tier1 - - 64 0 0.00 39 11 22.00 ENSG00000238643 0 genome.wustl.edu 37 GL000229.1 17346 17346 + RNA SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce GL000229.1 17346 17346 C T SNP ENSG00000238643 ENST00000459109 human ensembl 74_37 +1 novel rna NULL NULL NULL - - - no_errors CT978678.1 Clone_based_ensembl_gene ENSG00000238643 tier1 - - 20 0 0.00 5 4 44.44 ENSG00000244306 0 genome.wustl.edu 37 14 19856894 19856894 + RNA SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 14 19856894 19856894 A G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 63 0 0.00 17 4 19.05 EPB41L5 0 genome.wustl.edu 37 2 120848034 120848034 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 120848034 120848034 G A SNP EPB41L5 ENST00000263713 human ensembl 74_37 +1 known missense c.985 p.V329I 1.000 pfam_FERM_PH-like_C pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L5 HGNC ENSG00000115109 tier1 - - 181 0 0.00 102 49 32.45 ERBB4 0 genome.wustl.edu 37 2 212251789 212251789 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 212251789 212251789 T G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3270 p.E1090D 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt 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 ERBB4 HGNC ENSG00000178568 tier1 - - 207 0 0.00 96 32 25.00 EVC 0 genome.wustl.edu 37 4 5721000 5721000 + Missense_Mutation SNP A A T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 5721000 5721000 A T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.200 p.K67M 0.019 NULL NULL - no_errors EVC HGNC ENSG00000072840 tier1 - - 188 0 0.00 105 39 26.90 EYS 0 genome.wustl.edu 37 6 66115119 66115119 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 66115119 66115119 T C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1004 p.E335G 0.000 smart_EG-like_dom pfam_Laminin_G,pfam_EG-like_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 EYS HGNC ENSG00000188107 tier1 - - 157 0 0.00 87 14 13.86 FAIM3 0 genome.wustl.edu 37 1 207086380 207086380 + Missense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 207086380 207086380 C A SNP FAIM3 ENST00000367091 human ensembl 74_37 -1 known missense c.381 p.E127D 0.033 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC ENSG00000162894 tier1 - - 264 0 0.00 105 45 30.00 FAT3 0 genome.wustl.edu 37 11 92258089 92258089 + Frame_Shift_Del DEL T T - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 92258089 92258089 T - DEL FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_del c.3582 p.F1196fs 0.992 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 45 0 0.00 32 2 5.88 FAT3 0 genome.wustl.edu 37 11 92532322 92532322 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 92532322 92532322 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6143 p.E2048G 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 - - 54 0 0.00 21 9 30.00 FAT4 0 genome.wustl.edu 37 4 126411985 126411985 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 126411985 126411985 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14008 p.S4670R 0.997 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 65 0 0.00 42 15 26.32 FBN1 0 genome.wustl.edu 37 15 48797297 48797297 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 48797297 48797297 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1885 p.V629I 0.995 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 rs140503215 - 161 0 0.00 80 29 26.61 FCRL3 0 genome.wustl.edu 37 1 157665142 157665142 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 157665142 157665142 T G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1406 p.H469P 0.011 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 220 0 0.00 122 23 15.86 FCRL3 0 genome.wustl.edu 37 1 157667003 157667003 + Silent SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 157667003 157667003 A C SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.771 p.S257 0.067 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 100 0 0.00 52 18 25.71 FCRL3 0 genome.wustl.edu 37 1 157667009 157667009 + Silent SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 157667009 157667009 T C SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.765 p.S255 0.002 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 105 0 0.00 55 23 29.49 FCRL5 0 genome.wustl.edu 37 1 157494335 157494335 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 157494335 157494335 C T SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.1973 p.R658H 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 74 0 0.00 22 18 45.00 FDXR 0 genome.wustl.edu 37 17 72860376 72860376 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 17 72860376 72860376 G A SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.914 p.A305V 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 tier1 - - 72 0 0.00 31 10 24.39 FGA 0 genome.wustl.edu 37 4 155508044 155508044 + Silent SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 155508044 155508044 A C SNP FGA ENST00000302053 human ensembl 74_37 -1 known silent c.537 p.S179 1.000 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 tier1 - - 84 0 0.00 44 18 29.03 FGF12 0 genome.wustl.edu 37 3 192053248 192053248 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 192053248 192053248 A G SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known missense c.316 p.F106L 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 tier1 - - 119 0 0.00 43 22 33.85 FGF6 0 genome.wustl.edu 37 12 4554463 4554463 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 4554463 4554463 C T SNP FGF6 ENST00000228837 human ensembl 74_37 -1 known missense c.274 p.V92M 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF6 HGNC ENSG00000111241 tier1 - - 53 0 0.00 30 10 25.00 FIGN 0 genome.wustl.edu 37 2 164467402 164467402 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 164467402 164467402 T C SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.940 p.S314G 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 152 0 0.00 82 22 21.15 FLG 0 genome.wustl.edu 37 1 152279764 152279764 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 152279764 152279764 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7598 p.R2533H 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 516 0 0.00 251 83 24.78 FLNB 0 genome.wustl.edu 37 3 58124035 58124035 + Missense_Mutation SNP A A T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 58124035 58124035 A T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.4888 p.T1630S 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 tier1 - - 153 0 0.00 74 25 25.25 FMN2 0 genome.wustl.edu 37 1 240555839 240555839 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 240555839 240555839 T G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4887 p.N1629K 0.628 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 143 0 0.00 101 15 12.93 FN1 0 genome.wustl.edu 37 2 216245696 216245696 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 216245696 216245696 A G SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.5272 p.S1758P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 100 0 0.00 50 8 13.79 FNBP1 0 genome.wustl.edu 37 9 132687435 132687435 + Missense_Mutation SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 132687435 132687435 T A SNP FNBP1 ENST00000446176 human ensembl 74_37 -1 known missense c.791 p.D264V 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FNBP1 HGNC ENSG00000187239 tier1 - - 129 0 0.00 47 12 20.34 GABBR2 0 genome.wustl.edu 37 9 101065694 101065694 + Silent SNP C C G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 101065694 101065694 C G SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known silent c.2241 p.L747 1.000 pfscan_GPCR_3_C pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 tier1 - - 155 0 0.00 94 19 16.81 GABRB3 0 genome.wustl.edu 37 15 26866608 26866608 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 26866608 26866608 T G SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.314 p.N105T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAb_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 113 0 0.00 83 20 19.42 GABRG1 0 genome.wustl.edu 37 4 46125855 46125855 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 46125855 46125855 A C SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.76 p.L26V 0.999 prints_GABBAg_rcpt,prints_GABBAg1_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 - - 114 0 0.00 50 10 16.67 GABRG3 0 genome.wustl.edu 37 15 27777950 27777950 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 27777950 27777950 T C SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known missense c.1327 p.S443P 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 tier1 - - 73 0 0.00 27 10 27.03 GJD2 0 genome.wustl.edu 37 15 35045039 35045039 + Silent SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 35045039 35045039 T C SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known silent c.606 p.Q202 1.000 prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 tier1 - - 116 0 0.00 49 11 18.33 GLT8D1 0 genome.wustl.edu 37 3 52730257 52730257 + Silent SNP A A T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 52730257 52730257 A T SNP GLT8D1 ENST00000266014 human ensembl 74_37 -1 known silent c.525 p.I175 0.936 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 tier1 - - 64 0 0.00 35 9 20.45 GPC6 0 genome.wustl.edu 37 13 94482409 94482409 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 94482409 94482409 T G SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.322 p.F108V 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 124 0 0.00 61 20 24.39 GPR12 0 genome.wustl.edu 37 13 27333452 27333452 + Silent SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 27333452 27333452 C A SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known silent c.513 p.L171 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 tier1 - - 67 0 0.00 16 4 20.00 GPRC5C 0 genome.wustl.edu 37 17 72436565 72436567 + In_Frame_Del DEL TGC TGC - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 17 72436565 72436567 TGC - DEL GPRC5C ENST00000392627 human ensembl 74_37 +1 known in_frame_del c.785_787 p.L266in_frame_del 1.000:1.000:0.994 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 60 0 0.00 30 2 6.25 GRIN2C 0 genome.wustl.edu 37 17 72851077 72851077 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 17 72851077 72851077 G A SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.155 p.P52L 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 tier1 - - 73 0 0.00 33 8 19.51 GRXCR1 0 genome.wustl.edu 37 4 42895376 42895376 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 42895376 42895376 A C SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.93 p.E31D 1.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 tier1 - - 189 0 0.00 92 26 22.03 GSDMC 0 genome.wustl.edu 37 8 130788446 130788446 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 130788446 130788446 T G SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.306 p.E102D 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 106 0 0.00 50 26 34.21 GUCY1A2 0 genome.wustl.edu 37 11 106558376 106558376 + Silent SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 106558376 106558376 T G SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known silent c.2191 p.R731 1.000 superfamily_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 tier1 - - 281 0 0.00 138 46 25.00 GZMA 0 genome.wustl.edu 37 5 54404031 54404031 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 54404031 54404031 A C SNP GZMA ENST00000274306 human ensembl 74_37 +1 known missense c.436 p.T146P 0.993 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 tier1 - - 39 0 0.00 31 13 29.55 HOXD10 0 genome.wustl.edu 37 2 176982146 176982146 + Silent SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 176982146 176982146 G A SNP HOXD10 ENST00000249501 human ensembl 74_37 +1 known silent c.585 p.L195 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 tier1 - - 106 0 0.00 26 9 25.71 HOXD13 0 genome.wustl.edu 37 2 176959436 176959436 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 176959436 176959436 A G SNP HOXD13 ENST00000392539 human ensembl 74_37 +1 putative missense c.1010 p.K337R 1.000 smart_Homeobox_dom pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXD13 HGNC ENSG00000128714 tier1 - - 102 0 0.00 50 6 10.71 HS3ST4 0 genome.wustl.edu 37 16 26147401 26147401 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 16 26147401 26147401 A G SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known silent c.1203 p.E401 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 tier1 - - 39 0 0.00 14 4 22.22 HS3ST4 0 genome.wustl.edu 37 16 26147460 26147460 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 16 26147460 26147460 A C SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known missense c.1262 p.D421A 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 14 0 0.00 19 4 17.39 HSP90AA1 0 genome.wustl.edu 37 14 102552287 102552287 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 14 102552287 102552287 A G SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.703 p.S235P 1.000 pirsf_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 141 0 0.00 70 4 5.33 HSPA5 0 genome.wustl.edu 37 9 128003154 128003154 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 128003154 128003154 A G SNP HSPA5 ENST00000324460 human ensembl 74_37 -1 known missense c.155 p.I52T 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 tier1 - - 70 0 0.00 50 13 20.63 HSPA5 0 genome.wustl.edu 37 9 128003158 128003158 + Nonsense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 128003158 128003158 C A SNP HSPA5 ENST00000324460 human ensembl 74_37 -1 known nonsense c.151 p.E51* 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 tier1 - - 72 0 0.00 52 13 20.00 HSPD1 0 genome.wustl.edu 37 2 198359434 198359434 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 198359434 198359434 T C SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known missense c.553 p.I185V 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 - - 90 0 0.00 57 7 10.94 HSPD1 0 genome.wustl.edu 37 2 198359456 198359456 + Missense_Mutation SNP G G C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 198359456 198359456 G C SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known missense c.531 p.N177K 0.997 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 - - 86 0 0.00 60 7 10.45 HTR1E 0 genome.wustl.edu 37 6 87725104 87725104 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 87725104 87725104 A G SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.52 p.T18A 0.981 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 - - 50 0 0.00 19 9 32.14 IARS 0 genome.wustl.edu 37 9 95004653 95004653 + RNA SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 95004653 95004653 C T SNP IARS ENST00000474340 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IARS HGNC ENSG00000196305 tier1 - - 29 0 0.00 19 13 40.62 IL12RB2 0 genome.wustl.edu 37 1 67861509 67861509 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 67861509 67861509 G A SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.2326 p.D776N 0.000 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 tier1 - - 112 0 0.00 63 24 27.59 IL1RAPL2 0 genome.wustl.edu 37 X 104440310 104440310 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 104440310 104440310 A C SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.236 p.N79T 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 tier1 - - 47 0 0.00 13 21 61.76 IQUB 0 genome.wustl.edu 37 7 123101560 123101560 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 123101560 123101560 G A SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.1858 p.R620C 0.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 tier1 rs141036933 - 91 0 0.00 34 11 24.44 IQUB 0 genome.wustl.edu 37 7 123143346 123143346 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 123143346 123143346 T G SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.604 p.I202L 0.694 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 tier1 - - 297 0 0.00 160 45 21.95 ISX 0 genome.wustl.edu 37 22 35478520 35478520 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 22 35478520 35478520 A C SNP ISX ENST00000308700 human ensembl 74_37 +1 known missense c.239 p.K80T 0.969 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ISX HGNC ENSG00000175329 tier1 - - 78 0 0.00 32 12 27.27 ITSN2 0 genome.wustl.edu 37 2 24433702 24433702 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 24433702 24433702 A C SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.4204 p.S1402A 1.000 superfamily_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 tier1 - - 124 0 0.00 67 23 25.56 JRKL 0 genome.wustl.edu 37 11 96125332 96125332 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 96125332 96125332 C T SNP JRKL ENST00000332349 human ensembl 74_37 +1 known missense c.1519 p.R507C 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC ENSG00000183340 tier1 - - 79 0 0.00 41 10 19.23 KCNV2 0 genome.wustl.edu 37 9 2718543 2718543 + Silent SNP C C G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 2718543 2718543 C G SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known silent c.804 p.T268 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 tier1 - - 36 0 0.00 13 8 38.10 KERA 0 genome.wustl.edu 37 12 91449283 91449283 + Missense_Mutation SNP A A T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 91449283 91449283 A T SNP KERA ENST00000266719 human ensembl 74_37 -1 known missense c.776 p.F259Y 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors KERA HGNC ENSG00000139330 tier1 - - 219 0 0.00 76 31 28.97 KERA 0 genome.wustl.edu 37 12 91449306 91449306 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 91449306 91449306 A C SNP KERA ENST00000266719 human ensembl 74_37 -1 known missense c.753 p.D251E 0.999 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors KERA HGNC ENSG00000139330 tier1 - - 233 0 0.00 91 33 26.61 KIAA0355 0 genome.wustl.edu 37 19 34791348 34791348 + RNA SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 34791348 34791348 T G SNP KIAA0355 ENST00000592124 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIAA0355 HGNC ENSG00000166398 tier1 - - 70 0 0.00 56 18 24.00 KIAA0408 0 genome.wustl.edu 37 6 127768231 127768231 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 127768231 127768231 A G SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel silent c.1233 p.C411 0.000 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 tier1 - - 114 0 0.00 55 16 22.54 KIF21B 0 genome.wustl.edu 37 1 200971338 200971338 + Silent SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 200971338 200971338 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.1353 p.R451 0.106 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 117 0 0.00 43 8 15.69 KIF21B 0 genome.wustl.edu 37 1 200978484 200978484 + Silent SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 200978484 200978484 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.174 p.T58 0.515 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 71 0 0.00 29 11 27.50 KRTAP10-3 0 genome.wustl.edu 37 21 45977946 45977946 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 21 45977946 45977946 T C SNP KRTAP10-3 ENST00000391620 human ensembl 74_37 -1 known missense c.653 p.K218R 0.280 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 tier1 - - 76 0 0.00 41 10 19.61 KY 0 genome.wustl.edu 37 3 134327665 134327665 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 134327665 134327665 A C SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.916 p.F306V 1.000 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 tier1 - - 61 0 0.00 18 7 28.00 LAMA3 0 genome.wustl.edu 37 18 21530076 21530076 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 21530076 21530076 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.9595 p.G3199R 0.913 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 143 0 0.00 77 34 30.63 LCE1C 0 genome.wustl.edu 37 1 152777872 152777872 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 152777872 152777872 T C SNP LCE1C ENST00000368768 human ensembl 74_37 -1 known missense c.83 p.K28R 0.025 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 tier1 - - 74 0 0.00 26 9 25.71 LCE1F 0 genome.wustl.edu 37 1 152748930 152748930 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 152748930 152748930 A C SNP LCE1F ENST00000334371 human ensembl 74_37 +1 known missense c.83 p.K28T 0.231 NULL NULL - no_errors LCE1F HGNC ENSG00000240386 tier1 - - 114 0 0.00 47 17 26.56 LINGO2 0 genome.wustl.edu 37 9 27949671 27949671 + Silent SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 27949671 27949671 C A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known silent c.999 p.L333 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 100 0 0.00 32 17 34.69 LINGO2 0 genome.wustl.edu 37 9 27949672 27949672 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 27949672 27949672 A G SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.998 p.L333P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 tier1 - - 99 0 0.00 33 18 35.29 LRP1B 0 genome.wustl.edu 37 2 141072656 141072656 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 141072656 141072656 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12653 p.K4218T 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 95 0 0.00 40 13 24.53 LRRK2 0 genome.wustl.edu 37 12 40713841 40713841 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 40713841 40713841 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.4879 p.S1627A 1.000 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 - - 182 0 0.00 83 32 27.83 LRRN1 0 genome.wustl.edu 37 3 3887102 3887102 + Silent SNP G G T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 3887102 3887102 G T SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known silent c.777 p.L259 0.989 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 tier1 - - 194 0 0.00 65 25 27.78 MAGEA6 0 genome.wustl.edu 37 X 151870025 151870025 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 151870025 151870025 T G SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known missense c.715 p.F239V 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 tier1 - - 217 0 0.00 45 62 57.94 MAGEB1 0 genome.wustl.edu 37 X 30269111 30269111 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 30269111 30269111 A C SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known missense c.501 p.E167D 0.042 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 tier1 - - 20 0 0.00 6 7 53.85 MAGEC3 0 genome.wustl.edu 37 X 140969357 140969357 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 140969357 140969357 A C SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.684 p.K228N 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 130 0 0.00 29 38 56.72 MAP2 0 genome.wustl.edu 37 2 210559324 210559324 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 210559324 210559324 A G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.2430 p.L810 0.981 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 190 0 0.00 104 42 28.77 MAP7D3 0 genome.wustl.edu 37 X 135314153 135314153 + Silent SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 135314153 135314153 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.909 p.A303 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 tier1 - - 188 0 0.00 38 61 61.62 MAPKBP1 0 genome.wustl.edu 37 15 42105824 42105824 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 42105824 42105824 A G SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known silent c.843 p.T281 0.145 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 tier1 - - 181 0 0.00 59 30 33.71 MCM6 0 genome.wustl.edu 37 2 136616891 136616891 + Missense_Mutation SNP C C G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 136616891 136616891 C G SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known missense c.1342 p.A448P 1.000 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 tier1 - - 100 0 0.00 57 31 35.23 MED12L 0 genome.wustl.edu 37 3 151112482 151112482 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 151112482 151112482 A C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.5542 p.T1848P 0.968 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 329 0 0.00 157 38 19.39 MGAT4B 0 genome.wustl.edu 37 5 179229075 179229075 + Nonsense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 179229075 179229075 C A SNP MGAT4B ENST00000337755 human ensembl 74_37 -1 known nonsense c.37 p.E13* 0.000 NULL pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 tier1 - - 163 0 0.00 38 25 39.68 MKRN2 0 genome.wustl.edu 37 3 12623307 12623308 + Frame_Shift_Ins INS - - A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 12623307 12623308 - A INS MKRN2 ENST00000170447 human ensembl 74_37 +1 known frame_shift_ins c.969_970 p.A325fs 0.968:1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN2 HGNC ENSG00000075975 tier1 114 0 0.00 63 20 24.10 MPEG1 0 genome.wustl.edu 37 11 58979847 58979847 + Silent SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 58979847 58979847 A C SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known silent c.492 p.T164 0.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 tier1 - - 195 0 0.00 81 42 34.15 MROH2B 0 genome.wustl.edu 37 5 41015505 41015505 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 41015505 41015505 T G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.2960 p.K987T 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 50 0 0.00 32 7 17.95 MRPS36 0 genome.wustl.edu 37 5 68524126 68524126 + Missense_Mutation SNP G G C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 68524126 68524126 G C SNP MRPS36 ENST00000256441 human ensembl 74_37 +1 known missense c.206 p.G69A 1.000 NULL NULL - no_errors MRPS36 HGNC ENSG00000134056 tier1 - - 95 0 0.00 54 17 23.94 MTUS2 0 genome.wustl.edu 37 13 29601027 29601027 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 29601027 29601027 A C SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2222 p.K741T 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 63 0 0.00 24 12 33.33 MTUS2 0 genome.wustl.edu 37 13 29608075 29608075 + Nonsense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 29608075 29608075 T G SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known nonsense c.2289 p.Y763* 0.275 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 44 0 0.00 39 7 15.22 MUC16 0 genome.wustl.edu 37 19 9068744 9068744 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 9068744 9068744 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.18702 p.S6234 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 102 0 0.00 55 12 17.91 MUC16 0 genome.wustl.edu 37 19 9083708 9083708 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 9083708 9083708 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.8107 p.S2703R 0.825 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 148 0 0.00 71 39 35.45 MYPN 0 genome.wustl.edu 37 10 69926386 69926386 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 69926386 69926386 G A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known missense c.1936 p.V646M 0.005 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 tier1 - - 79 0 0.00 31 25 44.64 NBEA 0 genome.wustl.edu 37 13 35615243 35615243 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 35615243 35615243 A C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.468 p.E156D 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 60 0 0.00 32 11 25.58 NETO1 0 genome.wustl.edu 37 18 70526206 70526206 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 70526206 70526206 A G SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known silent c.324 p.F108 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 193 0 0.00 97 31 24.22 NFIA 0 genome.wustl.edu 37 1 61818196 61818196 + Missense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 61818196 61818196 C A SNP NFIA ENST00000371189 human ensembl 74_37 +1 known missense c.910 p.P304T 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIA HGNC ENSG00000162599 tier1 - - 122 0 0.00 68 34 33.33 NPAP1 0 genome.wustl.edu 37 15 24921281 24921281 + Silent SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 24921281 24921281 T C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.267 p.G89 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 65 0 0.00 28 11 28.21 NPAS1 0 genome.wustl.edu 37 19 47542757 47542757 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 47542757 47542757 A G SNP NPAS1 ENST00000449844 human ensembl 74_37 +1 known silent c.897 p.P299 0.987 smart_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS1 HGNC ENSG00000130751 tier1 - - 65 0 0.00 32 10 23.81 NPHP4 0 genome.wustl.edu 37 1 5993253 5993253 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 5993253 5993253 T C SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.1256 p.H419R 0.111 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 tier1 - - 95 0 0.00 38 16 29.63 NR4A3 0 genome.wustl.edu 37 9 102590377 102590377 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 102590377 102590377 C T SNP NR4A3 ENST00000330847 human ensembl 74_37 +1 known missense c.86 p.A29V 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 tier1 - - 108 0 0.00 60 24 28.57 NTNG1 0 genome.wustl.edu 37 1 107691256 107691256 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 107691256 107691256 T G SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.41 p.V14G 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 tier1 - - 177 0 0.00 67 24 26.37 NUP205 0 genome.wustl.edu 37 7 135262716 135262716 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 135262716 135262716 C T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.821 p.A274V 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 tier1 - - 101 0 0.00 52 19 26.76 OGFRL1 0 genome.wustl.edu 37 6 72011416 72011416 + Silent SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 72011416 72011416 T C SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known silent c.1020 p.T340 0.027 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 tier1 - - 122 0 0.00 41 14 25.45 OLFM3 0 genome.wustl.edu 37 1 102269948 102269948 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 102269948 102269948 T C SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.1283 p.E428G 1.000 pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 265 0 0.00 120 53 30.64 OLR1 0 genome.wustl.edu 37 12 10319479 10319479 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 10319479 10319479 A G SNP OLR1 ENST00000309539 human ensembl 74_37 -1 known missense c.256 p.S86P 0.027 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors OLR1 HGNC ENSG00000173391 tier1 - - 246 0 0.00 116 42 26.58 OR13C4 0 genome.wustl.edu 37 9 107289081 107289081 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 107289081 107289081 T G SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.410 p.N137T 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 tier1 - - 143 0 0.00 74 23 23.71 OR14A16 0 genome.wustl.edu 37 1 247978692 247978692 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 247978692 247978692 T C SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.340 p.T114A 0.883 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 tier1 - - 88 0 0.00 53 16 23.19 OR1L1 0 genome.wustl.edu 37 9 125424499 125424499 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 125424499 125424499 T C SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.655 p.C219R 0.902 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 tier1 - - 279 0 0.00 176 33 15.79 OR1M1 0 genome.wustl.edu 37 19 9204413 9204413 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 9204413 9204413 C T SNP OR1M1 ENST00000429566 human ensembl 74_37 +1 known missense c.493 p.R165C 0.028 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1M1 HGNC ENSG00000170929 tier1 - - 202 0 0.00 93 35 27.34 OR2AG1 0 genome.wustl.edu 37 11 6806402 6806402 + Missense_Mutation SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 6806402 6806402 T A SNP OR2AG1 ENST00000307401 human ensembl 74_37 +1 known missense c.134 p.L45Q 0.986 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_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 OR2AG1 HGNC ENSG00000170803 tier1 - - 192 0 0.00 62 26 29.55 OR2L13 0 genome.wustl.edu 37 1 248262934 248262934 + Missense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 248262934 248262934 C A SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known missense c.257 p.S86Y 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L13 HGNC ENSG00000196071 tier1 - - 231 0 0.00 99 37 27.21 OR4C6 0 genome.wustl.edu 37 11 55432832 55432832 + Silent SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 55432832 55432832 T C SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known silent c.190 p.L64 0.096 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 tier1 - - 203 0 0.00 87 28 24.35 OR4D5 0 genome.wustl.edu 37 11 123810660 123810660 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 123810660 123810660 T C SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.337 p.F113L 0.746 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 111 0 0.00 48 20 29.41 OR4E2 0 genome.wustl.edu 37 14 22134211 22134211 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 14 22134211 22134211 A C SNP OR4E2 ENST00000408935 human ensembl 74_37 +1 known missense c.915 p.Q305H 0.994 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 tier1 - - 46 0 0.00 26 12 31.58 OR51B6 0 genome.wustl.edu 37 11 5373356 5373356 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 5373356 5373356 T G SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.619 p.L207V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 tier1 - - 133 0 0.00 56 22 28.21 OR5D16 0 genome.wustl.edu 37 11 55606243 55606243 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 55606243 55606243 A G SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.16 p.R6G 0.142 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 tier1 - - 222 0 0.00 110 26 19.12 OR5M8 0 genome.wustl.edu 37 11 56258818 56258818 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 56258818 56258818 T G SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.29 p.E10A 0.066 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 tier1 - - 120 0 0.00 45 14 23.73 OR6C1 0 genome.wustl.edu 37 12 55715064 55715064 + Silent SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 55715064 55715064 T G SNP OR6C1 ENST00000379668 human ensembl 74_37 +1 known silent c.681 p.P227 0.941 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 tier1 - - 112 0 0.00 67 29 30.21 OR6F1 0 genome.wustl.edu 37 1 247875242 247875242 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 247875242 247875242 T G SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.816 p.K272N 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 tier1 - - 167 0 0.00 85 24 22.02 OR8H2 0 genome.wustl.edu 37 11 55872919 55872919 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 55872919 55872919 T G SNP OR8H2 ENST00000313503 human ensembl 74_37 +1 known missense c.401 p.V134G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H2 HGNC ENSG00000181767 tier1 - - 277 0 0.00 142 18 11.25 P2RY12 0 genome.wustl.edu 37 3 151056209 151056209 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 151056209 151056209 T G SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known missense c.425 p.K142T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 tier1 - - 147 0 0.00 63 28 30.77 PAPL 0 genome.wustl.edu 37 19 39589196 39589196 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 39589196 39589196 G A SNP PAPL ENST00000331256 human ensembl 74_37 +1 known missense c.220 p.A74T 0.477 superfamily_Purple_acid_Pase-like_N pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 tier1 - - 45 0 0.00 31 7 18.42 PCDH11Y 0 genome.wustl.edu 37 Y 4925361 4925361 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce Y 4925361 4925361 A C SNP PCDH11Y ENST00000215473 human ensembl 74_37 +1 known missense c.497 p.D166A 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 tier1 - - 44 0 0.00 15 4 21.05 PCDH15 0 genome.wustl.edu 37 10 55892660 55892660 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 55892660 55892660 A C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1892 p.V631G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 31 0 0.00 17 5 22.73 PCDH19 0 genome.wustl.edu 37 X 99551588 99551588 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 99551588 99551588 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.3134 p.S1045N 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 37 0 0.00 11 13 54.17 PCDHA5 0 genome.wustl.edu 37 5 140201398 140201398 + Missense_Mutation SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 140201398 140201398 T A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.38 p.L13H 0.277 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 tier1 - - 112 0 0.00 46 20 30.30 PCDHB13 0 genome.wustl.edu 37 5 140595902 140595902 + Missense_Mutation SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 140595902 140595902 T A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.2207 p.L736H 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 295 0 0.00 143 26 15.38 PCDHB2 0 genome.wustl.edu 37 5 140474589 140474590 + Frame_Shift_Ins INS - - A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 140474589 140474590 - A INS PCDHB2 ENST00000194155 human ensembl 74_37 +1 known frame_shift_ins c.215_216 p.M75fs 0.209:0.087 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 125 0 0.00 54 16 22.86 PCDHGA3 0 genome.wustl.edu 37 5 140724572 140724572 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 140724572 140724572 A G SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.972 p.G324 0.270 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 - - 102 0 0.00 63 12 16.00 PDCD1 0 genome.wustl.edu 37 2 242794436 242794436 + Frame_Shift_Del DEL A A - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 242794436 242794436 A - DEL PDCD1 ENST00000334409 human ensembl 74_37 -1 known frame_shift_del c.506 p.L169fs 0.107 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 tier1 53 0 0.00 12 2 14.29 PDE4DIP 0 genome.wustl.edu 37 1 144995031 144995031 + RNA SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 144995031 144995031 T G SNP PDE4DIP ENST00000464103 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 60 0 0.00 25 5 16.67 PDGFD 0 genome.wustl.edu 37 11 103870963 103870963 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 103870963 103870963 A C SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known missense c.145 p.L49V 1.000 NULL pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 tier1 - - 138 0 0.00 61 28 31.46 PDZRN4 0 genome.wustl.edu 37 12 41966186 41966186 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 41966186 41966186 A C SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.1605 p.E535D 0.990 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 62 0 0.00 40 17 29.82 PGR 0 genome.wustl.edu 37 11 100920660 100920660 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 100920660 100920660 T G SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.2488 p.I830L 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 tier1 - - 79 0 0.00 38 16 29.63 PI15 0 genome.wustl.edu 37 8 75756291 75756291 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 75756291 75756291 T G SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.349 p.L117V 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 tier1 - - 311 0 0.00 126 37 22.70 PKHD1 0 genome.wustl.edu 37 6 51497461 51497461 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 51497461 51497461 T G SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.11567 p.K3856T 0.005 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 83 0 0.00 51 17 25.00 PKHD1L1 0 genome.wustl.edu 37 8 110477043 110477043 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 110477043 110477043 A C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.7982 p.E2661A 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 108 0 0.00 41 24 36.92 PNLIP 0 genome.wustl.edu 37 10 118315589 118315589 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 118315589 118315589 T G SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known missense c.889 p.F297V 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 tier1 - - 200 0 0.00 94 26 21.67 POSTN 0 genome.wustl.edu 37 13 38154111 38154111 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 38154111 38154111 A C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1547 p.L516R 0.931 pfam_FAS1_domain,superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 197 0 0.00 103 24 18.90 POT1 0 genome.wustl.edu 37 7 124503485 124503485 + Missense_Mutation SNP A A T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 124503485 124503485 A T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.465 p.D155E 1.000 superfamily_NA-bd_OB-fold pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 tier1 - - 160 0 0.00 70 26 27.08 POTEH 0 genome.wustl.edu 37 22 16279232 16279232 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 22 16279232 16279232 T C SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.991 p.K331E 0.067 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 tier1 - - 657 0 0.00 434 26 5.65 POU4F3 0 genome.wustl.edu 37 5 145719240 145719240 + Missense_Mutation SNP A A T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 145719240 145719240 A T SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known missense c.250 p.S84C 1.000 NULL 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 - no_errors POU4F3 HGNC ENSG00000091010 tier1 - - 122 0 0.00 61 22 26.51 PPP2R3A 0 genome.wustl.edu 37 3 135720780 135720780 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 135720780 135720780 A G SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.440 p.K147R 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 tier1 - - 103 0 0.00 33 11 25.00 PRAMEF4 0 genome.wustl.edu 37 1 12942149 12942149 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 12942149 12942149 T G SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.401 p.K134T 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 tier1 - - 395 0 0.00 252 92 26.67 PRSS1 0 genome.wustl.edu 37 7 142458464 142458464 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 142458464 142458464 T G SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known missense c.99 p.N33K 0.701 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS1 HGNC ENSG00000204983 tier1 - - 228 0 0.00 142 15 9.55 PRSS3P2 0 genome.wustl.edu 37 7 142479967 142479967 + RNA SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 142479967 142479967 T G SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 0.901 - - - no_errors PRSS3P2 HGNC ENSG00000250606 tier1 - - 288 0 0.00 155 17 9.88 PRUNE2 0 genome.wustl.edu 37 9 79325468 79325468 + Silent SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 79325468 79325468 T C SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known silent c.645 p.Q215 0.997 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 tier1 - - 41 0 0.00 22 5 18.52 PSMD1 0 genome.wustl.edu 37 2 231940264 231940264 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 231940264 231940264 T G SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.921 p.F307L 0.005 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 tier1 - - 59 0 0.00 37 20 35.09 PTPRT 0 genome.wustl.edu 37 20 40727077 40727077 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 20 40727077 40727077 T G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.3887 p.E1296A 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 101 0 0.00 43 20 31.75 RBCK1 0 genome.wustl.edu 37 20 389425 389426 + Splice_Site INS - - G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 20 389425 389426 - G INS RBCK1 ENST00000356286 human ensembl 74_37 +1 known splice_site_ins c.22+2_22+1 e1+2 1.000:0.997 - - - no_errors RBCK1 HGNC ENSG00000125826 tier1 27 0 0.00 7 2 22.22 RFWD2 0 genome.wustl.edu 37 1 176012321 176012321 + Splice_Site SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 176012321 176012321 C T SNP RFWD2 ENST00000367669 human ensembl 74_37 -1 known splice_site c.1612+1 e14+1 1.000 - - - no_errors RFWD2 HGNC ENSG00000143207 tier1 - - 233 0 0.00 118 39 24.84 RGL1 0 genome.wustl.edu 37 1 183895330 183895330 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 183895330 183895330 A C SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.2316 p.E772D 0.117 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 tier1 - - 137 0 0.00 71 20 21.74 RGPD3 0 genome.wustl.edu 37 2 107041486 107041486 + Silent SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 107041486 107041486 A C SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known silent c.2937 p.T979 0.997 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 386 0 0.00 218 63 22.42 RGS12 0 genome.wustl.edu 37 4 3318308 3318308 + Silent SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 3318308 3318308 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known silent c.411 p.V137 0.460 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 185 0 0.00 45 37 45.12 RGS4 0 genome.wustl.edu 37 1 163044307 163044307 + Missense_Mutation SNP A A T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 163044307 163044307 A T SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known missense c.866 p.K289M 0.576 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS4 HGNC ENSG00000117152 tier1 - - 145 0 0.00 73 16 17.78 RHO 0 genome.wustl.edu 37 3 129252539 129252539 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 129252539 129252539 C T SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.1025 p.T342M 1.000 NULL pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 tier1 - - 175 0 0.00 80 18 18.18 RNF112 0 genome.wustl.edu 37 17 19318458 19318458 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 17 19318458 19318458 C T SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel missense c.1234 p.R412C 0.066 NULL pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 tier1 - - 67 0 0.00 22 14 38.89 ROBO3 0 genome.wustl.edu 37 11 124748281 124748283 + In_Frame_Del DEL CTT CTT - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 124748281 124748283 CTT - DEL ROBO3 ENST00000397801 human ensembl 74_37 +1 known in_frame_del c.3269_3271 p.S1091in_frame_del 1.000:0.991:0.999 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 tier1 61 0 0.00 40 8 16.67 ROR1 0 genome.wustl.edu 37 1 64643155 64643155 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 64643155 64643155 A C SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known missense c.1431 p.E477D 1.000 pirsf_Tyr_kinase_rcpt_ROR,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_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 tier1 - - 370 0 0.00 150 43 22.28 RRAD 0 genome.wustl.edu 37 16 66956095 66956095 + Nonsense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 16 66956095 66956095 G A SNP RRAD ENST00000299759 human ensembl 74_37 -1 known nonsense c.811 p.R271* 1.000 superfamily_P-loop_NTPase,pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC ENSG00000166592 tier1 - - 96 0 0.00 40 23 36.51 RUNX1 0 genome.wustl.edu 37 21 36171737 36171737 + Silent SNP G G C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 21 36171737 36171737 G C SNP RUNX1 ENST00000300305 human ensembl 74_37 -1 known silent c.828 p.S276 1.000 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 tier1 - - 106 0 0.00 44 17 27.87 SALL1 0 genome.wustl.edu 37 16 51173043 51173043 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 16 51173043 51173043 A C SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.3090 p.I1030M 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 115 0 0.00 44 24 35.29 SAMD9L 0 genome.wustl.edu 37 7 92762914 92762914 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 92762914 92762914 T C SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.2371 p.S791G 0.003 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 157 0 0.00 99 21 17.50 SCAND3 0 genome.wustl.edu 37 6 28543865 28543865 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 28543865 28543865 T G SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.617 p.N206T 0.089 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 102 0 0.00 78 5 6.02 SCN10A 0 genome.wustl.edu 37 3 38797370 38797370 + Missense_Mutation SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 38797370 38797370 T A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.1370 p.E457V 0.117 NULL 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 - - 278 0 0.00 123 42 25.30 SCN10A 0 genome.wustl.edu 37 3 38835308 38835308 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 38835308 38835308 T G SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.194 p.K65T 0.094 NULL 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 - - 153 0 0.00 67 36 34.95 SCN1A 0 genome.wustl.edu 37 2 166901750 166901750 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 166901750 166901750 A C SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1465 p.L489V 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 249 0 0.00 114 21 15.56 SEMA4A 0 genome.wustl.edu 37 1 156144723 156144723 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 156144723 156144723 C T SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known missense c.1426 p.P476S 0.337 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4A HGNC ENSG00000196189 tier1 - - 123 0 0.00 55 22 28.57 SERPINB2 0 genome.wustl.edu 37 18 61564333 61564333 + Silent SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 61564333 61564333 T A SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known silent c.297 p.A99 0.341 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 tier1 - - 113 0 0.00 50 18 26.47 SFXN5 0 genome.wustl.edu 37 2 73298797 73298799 + In_Frame_Del DEL GCC GCC - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 73298797 73298799 GCC - DEL SFXN5 ENST00000272433 human ensembl 74_37 -1 known in_frame_del c.38_36 p.A13in_frame_del 1.000:1.000:0.985 NULL pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 tier1 50 0 0.00 24 3 11.11 SH3BP5 0 genome.wustl.edu 37 3 15373833 15373835 + In_Frame_Del DEL TCC TCC - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 15373833 15373835 TCC - DEL SH3BP5 ENST00000383791 human ensembl 74_37 -1 known in_frame_del c.83_81 p.E29in_frame_del 0.983:0.997:0.997 NULL pfam_SH3-bd_5 - no_errors SH3BP5 HGNC ENSG00000131370 tier1 12 0 0.00 5 2 28.57 SI 0 genome.wustl.edu 37 3 164764701 164764701 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 3 164764701 164764701 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.1815 p.N605 0.019 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 134 0 0.00 59 27 31.40 SIGLEC5 0 genome.wustl.edu 37 19 52129359 52129359 + Missense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 52129359 52129359 C A SNP SIGLEC5 ENST00000222107 human ensembl 74_37 -1 known missense c.1390 p.A464S 0.004 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC5 HGNC ENSG00000105501 tier1 - - 136 0 0.00 52 25 32.47 SLC24A2 0 genome.wustl.edu 37 9 19786174 19786174 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 19786174 19786174 A C SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known missense c.691 p.L231V 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 tier1 - - 119 0 0.00 63 18 22.22 SLC24A2 0 genome.wustl.edu 37 9 19786622 19786622 + Silent SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 19786622 19786622 A C SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known silent c.243 p.G81 0.572 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 tier1 - - 198 0 0.00 98 23 18.85 SLC4A4 0 genome.wustl.edu 37 4 72338536 72338536 + Silent SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 72338536 72338536 G A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known silent c.1752 p.T584 0.001 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 tier1 - - 254 0 0.00 113 40 25.97 SLC9A8 0 genome.wustl.edu 37 20 48494552 48494552 + Silent SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 20 48494552 48494552 T A SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known silent c.1158 p.I386 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 - - 113 0 0.00 51 30 37.04 SLCO1B1 0 genome.wustl.edu 37 12 21331524 21331524 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 21331524 21331524 T C SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.496 p.S166P 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 tier1 - - 131 0 0.00 69 22 24.18 SLCO5A1 0 genome.wustl.edu 37 8 70594465 70594465 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 70594465 70594465 T G SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.1736 p.N579T 1.000 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 tier1 - - 138 0 0.00 67 40 37.38 SLIT2 0 genome.wustl.edu 37 4 20525678 20525678 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 20525678 20525678 A G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1316 p.K439R 1.000 smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 179 0 0.00 101 45 30.61 SLIT2 0 genome.wustl.edu 37 4 20598274 20598274 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 20598274 20598274 T G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3557 p.L1186R 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 51 0 0.00 51 14 21.54 SLITRK1 0 genome.wustl.edu 37 13 84453953 84453953 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 84453953 84453953 A C SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1690 p.F564V 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 50 0 0.00 21 7 25.00 SLX1A-SULT1A3 0 genome.wustl.edu 37 16 30206056 30206056 + RNA SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 16 30206056 30206056 C T SNP SLX1A-SULT1A3 ENST00000565342 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLX1A-SULT1A3 HGNC ENSG00000213599 tier1 - - 59 0 0.00 24 6 20.00 SMO 0 genome.wustl.edu 37 7 128850319 128850319 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 128850319 128850319 A G SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.1582 p.T528A 1.000 pfam_Frizzled,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 tier1 - - 138 0 0.00 56 30 34.88 SNCAIP 0 genome.wustl.edu 37 5 121787163 121787163 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 121787163 121787163 A C SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2762 p.N921T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 tier1 - - 105 0 0.00 46 23 33.33 SNHG14 0 genome.wustl.edu 37 15 25432582 25432582 + RNA SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 25432582 25432582 A C SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 92 0 0.00 36 18 33.33 SNHG14 0 genome.wustl.edu 37 15 25468227 25468227 + RNA SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 25468227 25468227 T C SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 21 0 0.00 8 4 33.33 SORCS1 0 genome.wustl.edu 37 10 108459101 108459101 + Silent SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 10 108459101 108459101 T C SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known silent c.1284 p.Q428 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 84 0 0.00 40 19 32.20 SOX1 0 genome.wustl.edu 37 13 112722296 112722296 + Silent SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 112722296 112722296 C T SNP SOX1 ENST00000330949 human ensembl 74_37 +1 known silent c.324 p.R108 0.989 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 tier1 - - 68 0 0.00 20 9 31.03 SPAG16 0 genome.wustl.edu 37 2 215013957 215013957 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 215013957 215013957 A G SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1687 p.S563G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 tier1 - - 199 0 0.00 111 43 27.92 SPATA9 0 genome.wustl.edu 37 5 94994526 94994526 + Missense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 94994526 94994526 C A SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known missense c.566 p.C189F 0.002 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 tier1 - - 135 0 0.00 77 21 21.43 SPEF2 0 genome.wustl.edu 37 5 35740142 35740142 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 35740142 35740142 A C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.3185 p.E1062A 0.073 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 162 0 0.00 65 23 26.14 SPP1 0 genome.wustl.edu 37 4 88902640 88902640 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 88902640 88902640 A C SNP SPP1 ENST00000395080 human ensembl 74_37 +1 known missense c.230 p.K77T 0.001 pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin - no_errors SPP1 HGNC ENSG00000118785 tier1 - - 139 0 0.00 80 22 21.57 ST8SIA4 0 genome.wustl.edu 37 5 100222285 100222285 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 5 100222285 100222285 A G SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known silent c.265 p.L89 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 tier1 - - 109 0 0.00 46 15 24.59 SVEP1 0 genome.wustl.edu 37 9 113171134 113171134 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 113171134 113171134 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.6746 p.R2249H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,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 - - 199 0 0.00 100 36 26.47 SYNE1 0 genome.wustl.edu 37 6 152639241 152639241 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 152639241 152639241 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.16547 p.E5516G 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 210 0 0.00 128 47 26.86 SYNE1 0 genome.wustl.edu 37 6 152652576 152652576 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 152652576 152652576 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13244 p.L4415R 0.984 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 77 0 0.00 49 16 24.62 SYNE1 0 genome.wustl.edu 37 6 152776664 152776664 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 152776664 152776664 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2789 p.K930T 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 190 0 0.00 85 28 24.78 TCEB3CL2 0 genome.wustl.edu 37 18 44543231 44543231 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 18 44543231 44543231 C T SNP TCEB3CL2 ENST00000591973 human ensembl 74_37 -1 known missense c.1141 p.D381N 0.000 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC ENSG00000266996 tier1 - - 341 0 0.00 120 13 9.77 TDO2 0 genome.wustl.edu 37 4 156831306 156831306 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 4 156831306 156831306 A C SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known missense c.561 p.E187D 0.983 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 tier1 - - 127 0 0.00 53 37 41.11 TECTA 0 genome.wustl.edu 37 11 121016289 121016289 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 121016289 121016289 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3569 p.P1190L 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 432 0 0.00 228 78 25.49 TECTA 0 genome.wustl.edu 37 11 121016671 121016671 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 121016671 121016671 A G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.3951 p.K1317 0.973 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 172 0 0.00 93 24 20.51 TEK 0 genome.wustl.edu 37 9 27173283 27173283 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 9 27173283 27173283 A C SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.824 p.K275T 1.000 smart_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 106 0 0.00 62 20 24.10 TEX35 0 genome.wustl.edu 37 1 178485752 178485752 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 178485752 178485752 A G SNP TEX35 ENST00000319416 human ensembl 74_37 +1 known missense c.219 p.I73M 0.999 NULL NULL - no_errors TEX35 HGNC ENSG00000240021 tier1 - - 78 0 0.00 30 15 33.33 TG 0 genome.wustl.edu 37 8 133931624 133931624 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 133931624 133931624 A G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.4382 p.K1461R 0.873 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 72 0 0.00 26 13 33.33 TIMP3 0 genome.wustl.edu 37 22 33245511 33245511 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 22 33245511 33245511 A G SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known missense c.194 p.K65R 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 tier1 - - 68 0 0.00 30 11 26.83 TIMP3 0 genome.wustl.edu 37 22 33254085 33254085 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 22 33254085 33254085 A C SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known missense c.398 p.K133T 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 tier1 - - 68 0 0.00 38 15 28.30 TMCC2 0 genome.wustl.edu 37 1 205238456 205238456 + Missense_Mutation SNP G G A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 205238456 205238456 G A SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.1126 p.V376M 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 tier1 - - 40 0 0.00 17 7 29.17 TMEM132D 0 genome.wustl.edu 37 12 129569120 129569120 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 12 129569120 129569120 A C SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1571 p.L524R 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 75 0 0.00 32 9 21.95 TMX2 0 genome.wustl.edu 37 11 57507613 57507613 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 57507613 57507613 C T SNP TMX2 ENST00000278422 human ensembl 74_37 +1 known missense c.787 p.R263W 0.625 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX2 HGNC ENSG00000213593 tier1 - - 80 0 0.00 43 14 24.56 TNN 0 genome.wustl.edu 37 1 175066551 175066551 + Splice_Site SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 1 175066551 175066551 A C SNP TNN ENST00000239462 human ensembl 74_37 +1 known splice_site c.1589-2 e7-2 1.000 - - - no_errors TNN HGNC ENSG00000120332 tier1 - - 93 0 0.00 53 19 26.39 TRBV11-2 0 genome.wustl.edu 37 7 142197809 142197809 + RNA SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 7 142197809 142197809 C A SNP TRBV11-2 ENST00000471935 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TRBV11-2 HGNC ENSG00000241657 tier1 - - 65 0 0.00 19 7 26.92 TRIM26 0 genome.wustl.edu 37 6 30164337 30164337 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 6 30164337 30164337 C T SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known missense c.721 p.E241K 0.927 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 tier1 - - 89 0 0.00 54 16 22.86 TRO 0 genome.wustl.edu 37 X 54949375 54949375 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce X 54949375 54949375 A C SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.410 p.K137T 0.008 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 tier1 - - 20 0 0.00 4 5 55.56 TRPM1 0 genome.wustl.edu 37 15 31295052 31295052 + Missense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 31295052 31295052 C A SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.3902 p.S1301I 0.994 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 103 0 0.00 56 5 8.20 TRPM1 0 genome.wustl.edu 37 15 31329941 31329941 + Silent SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 31329941 31329941 C T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.2595 p.A865 0.001 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 164 0 0.00 81 17 17.35 TTC21B 0 genome.wustl.edu 37 2 166773870 166773870 + Missense_Mutation SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 166773870 166773870 C T SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.1796 p.G599E 0.363 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 tier1 - - 160 0 0.00 88 27 23.48 TTC6 0 genome.wustl.edu 37 14 38311409 38311409 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 14 38311409 38311409 A C SNP TTC6 ENST00000267368 human ensembl 74_37 +1 known missense c.1476 p.K492N 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 tier1 - - 233 0 0.00 102 37 26.62 TTN 0 genome.wustl.edu 37 2 179423165 179423165 + Silent SNP C C T TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 179423165 179423165 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.79317 p.E26439 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 60 0 0.00 29 6 17.14 TTN 0 genome.wustl.edu 37 2 179616598 179616598 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 179616598 179616598 A C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.10529 p.L3510R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 274 0 0.00 126 56 30.77 TTN 0 genome.wustl.edu 37 2 179639659 179639659 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 179639659 179639659 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.6779 p.L2260R 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,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 - - 99 0 0.00 50 15 23.08 UBR1 0 genome.wustl.edu 37 15 43378376 43378376 + Silent SNP T T A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 15 43378376 43378376 T A SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known silent c.144 p.P48 0.959 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 tier1 - - 199 0 0.00 95 41 29.93 WASF3 0 genome.wustl.edu 37 13 27250786 27250786 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 13 27250786 27250786 T G SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known missense c.641 p.L214R 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 100 0 0.00 41 12 22.64 WDR75 0 genome.wustl.edu 37 2 190328422 190328422 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 190328422 190328422 A G SNP WDR75 ENST00000314761 human ensembl 74_37 +1 known missense c.940 p.I314V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 tier1 - - 89 0 0.00 57 12 17.39 WT1 0 genome.wustl.edu 37 11 32413574 32413574 + Missense_Mutation SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 11 32413574 32413574 T G SNP WT1 ENST00000332351 human ensembl 74_37 -1 known missense c.1376 p.K459T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 tier1 - - 349 0 0.00 185 82 30.71 XIRP2 0 genome.wustl.edu 37 2 168101037 168101037 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 168101037 168101037 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known silent c.3135 p.Q1045 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 82 0 0.00 31 11 26.19 XIRP2 0 genome.wustl.edu 37 2 168110543 168110543 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 2 168110543 168110543 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10557 p.E3519D 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 113 0 0.00 48 25 34.25 ZFAT 0 genome.wustl.edu 37 8 135614890 135614890 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 8 135614890 135614890 A C SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1072 p.F358V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 81 0 0.00 45 10 18.18 ZNF285 0 genome.wustl.edu 37 19 44891889 44891889 + Missense_Mutation SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 44891889 44891889 T C SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.518 p.E173G 0.958 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 ZNF285 HGNC ENSG00000267508 tier1 - - 223 0 0.00 111 33 22.92 ZNF304 0 genome.wustl.edu 37 19 57868911 57868911 + Silent SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 57868911 57868911 T G SNP ZNF304 ENST00000282286 human ensembl 74_37 +1 known silent c.1674 p.P558 0.303 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 ZNF304 HGNC ENSG00000131845 tier1 - - 66 0 0.00 39 9 18.75 ZNF320 0 genome.wustl.edu 37 19 53384144 53384144 + Missense_Mutation SNP A A C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 53384144 53384144 A C SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.1235 p.L412R 0.879 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 ZNF320 HGNC ENSG00000182986 tier1 - - 109 0 0.00 50 14 21.88 ZNF418 0 genome.wustl.edu 37 19 58437527 58437527 + Silent SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 58437527 58437527 A G SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known silent c.2022 p.P674 0.070 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 - - 101 0 0.00 57 19 25.00 ZNF420 0 genome.wustl.edu 37 19 37618265 37618265 + Silent SNP T T G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 37618265 37618265 T G SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known silent c.372 p.T124 0.002 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 ZNF420 HGNC ENSG00000197050 tier1 - - 92 0 0.00 42 15 26.32 ZNF432 0 genome.wustl.edu 37 19 52538657 52538657 + Missense_Mutation SNP A A G TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 52538657 52538657 A G SNP ZNF432 ENST00000221315 human ensembl 74_37 -1 known missense c.275 p.L92S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF432 HGNC ENSG00000256087 tier1 - - 131 0 0.00 60 24 28.57 ZNF578 0 genome.wustl.edu 37 19 53014996 53014996 + Silent SNP T T C TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 53014996 53014996 T C SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known silent c.1362 p.S454 0.144 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 tier1 - - 91 0 0.00 41 18 30.51 ZNF790 0 genome.wustl.edu 37 19 37309846 37309846 + Missense_Mutation SNP C C A TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 37309846 37309846 C A SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.1400 p.R467L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 tier1 - - 103 0 0.00 68 22 24.44 ZNF91 0 genome.wustl.edu 37 19 23544803 23544805 + In_Frame_Del DEL TTC TTC - TCGA-VQ-A8P3-01A-11D-A364-08 TCGA-VQ-A8P3-10A-01D-A362-08 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0b52b767-994b-4e5e-85ab-6dd398681e70 35fbd54e-628b-479d-b52d-5d070e26dcce 19 23544803 23544805 TTC - DEL ZNF91 ENST00000300619 human ensembl 74_37 -1 known in_frame_del c.978_976 p.E326in_frame_del 0.071:0.041:0.010 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 ZNF91 HGNC ENSG00000167232 tier1 171 0 0.00 99 19 16.10