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 A4GALT 0 genome.wustl.edu 37 22 43089737 43089737 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 43089737 43089737 G T SNP A4GALT ENST00000249005 human ensembl 74_37 -1 known missense c.221 p.P74H 0.014 NULL pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 tier1 - - 173 0 0.00 104 23 18.11 ABCA12 0 genome.wustl.edu 37 2 215819997 215819997 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 215819997 215819997 A T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6322 p.F2108I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 74 0 0.00 79 13 14.13 ABCA12 0 genome.wustl.edu 37 2 215819997 215819997 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 215819997 215819997 A T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6322 p.F2108I 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 77 0 0.00 79 13 14.13 ABCA6 0 genome.wustl.edu 37 17 67132213 67132213 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 67132213 67132213 T C SNP ABCA6 ENST00000590645 human ensembl 74_37 -1 known missense c.480 p.I160M 0.000 NULL NULL - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 21 0 0.00 32 18 36.00 ACR 0 genome.wustl.edu 37 22 51183125 51183125 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 51183125 51183125 C T SNP ACR ENST00000216139 human ensembl 74_37 +1 known silent c.756 p.S252 0.000 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors ACR HGNC ENSG00000100312 tier1 rs200667515 - 120 0 0.00 81 7 7.95 ACR 0 genome.wustl.edu 37 22 51183125 51183125 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 51183125 51183125 C T SNP ACR ENST00000216139 human ensembl 74_37 +1 known silent c.756 p.S252 0.000 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors ACR HGNC ENSG00000100312 tier1 rs200667515 - 136 0 0.00 81 7 7.95 ACSM5 0 genome.wustl.edu 37 16 20429480 20429480 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 20429480 20429480 G A SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.304 p.A102T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 107 0 0.00 103 6 5.50 ACSM5 0 genome.wustl.edu 37 16 20429480 20429480 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 20429480 20429480 G A SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.304 p.A102T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 97 0 0.00 103 6 5.50 ACVRL1 0 genome.wustl.edu 37 12 52306268 52306268 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 52306268 52306268 G T SNP ACVRL1 ENST00000550683 human ensembl 74_37 +1 known missense c.52 p.G18C 0.620 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVRL1 HGNC ENSG00000139567 tier1 - - 50 0 0.00 31 4 11.43 ACYP1 0 genome.wustl.edu 37 14 75520169 75520169 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 75520169 75520169 G A SNP ACYP1 ENST00000238618 human ensembl 74_37 -1 known missense c.278 p.S93L 0.410 pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase - no_errors ACYP1 HGNC ENSG00000119640 tier1 - - 56 0 0.00 66 8 10.81 ACYP1 0 genome.wustl.edu 37 14 75520169 75520169 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 75520169 75520169 G A SNP ACYP1 ENST00000238618 human ensembl 74_37 -1 known missense c.278 p.S93L 0.410 pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase - no_errors ACYP1 HGNC ENSG00000119640 tier1 - - 64 0 0.00 66 8 10.81 ADAD1 0 genome.wustl.edu 37 4 123332394 123332394 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 123332394 123332394 T G SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.866 p.L289R 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 - - 44 0 0.00 39 12 23.53 ADAD1 0 genome.wustl.edu 37 4 123332394 123332394 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 123332394 123332394 T G SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.866 p.L289R 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 - - 54 0 0.00 39 12 23.53 ADAD2 0 genome.wustl.edu 37 16 84230517 84230517 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 84230517 84230517 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known silent c.1935 p.L645 0.960 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 tier1 - - 144 0 0.00 103 8 7.21 ADAD2 0 genome.wustl.edu 37 16 84230517 84230517 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 84230517 84230517 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known silent c.1935 p.L645 0.960 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 tier1 - - 91 0 0.00 103 8 7.21 ADAM10 0 genome.wustl.edu 37 15 59041748 59041748 + RNA SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 59041748 59041748 G A SNP ADAM10 ENST00000461408 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors ADAM10 HGNC ENSG00000137845 tier1 - - 68 0 0.00 40 4 8.70 ADAM32 0 genome.wustl.edu 37 8 39114802 39114802 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 39114802 39114802 T G SNP ADAM32 ENST00000379907 human ensembl 74_37 +1 known missense c.2102 p.V701G 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ENSG00000197140 tier1 - - 50 0 0.00 78 18 18.75 ADAM7 0 genome.wustl.edu 37 8 24324312 24324312 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 24324312 24324312 G T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.390 p.R130S 1.000 pfam_Peptidase_M12B_N 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 ADAM7 HGNC ENSG00000069206 tier1 - - 73 0 0.00 77 5 6.10 ADAM7 0 genome.wustl.edu 37 8 24324312 24324312 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 24324312 24324312 G T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.390 p.R130S 1.000 pfam_Peptidase_M12B_N 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 ADAM7 HGNC ENSG00000069206 tier1 - - 90 0 0.00 77 5 6.10 ADAMTS2 0 genome.wustl.edu 37 5 178540957 178540957 + Nonsense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 178540957 178540957 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known nonsense c.3547 p.R1183* 0.948 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 119 0 0.00 70 5 6.58 ADAMTS2 0 genome.wustl.edu 37 5 178540957 178540957 + Nonsense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 178540957 178540957 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known nonsense c.3547 p.R1183* 0.948 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 71 0 0.00 70 5 6.58 ADAMTS20 0 genome.wustl.edu 37 12 43826214 43826214 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 43826214 43826214 A G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.2989 p.F997L 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 - - 40 0 0.00 49 5 9.26 ADAMTS20 0 genome.wustl.edu 37 12 43826214 43826214 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 43826214 43826214 A G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.2989 p.F997L 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 - - 53 0 0.00 49 5 9.26 ADCK4 0 genome.wustl.edu 37 19 41208582 41208582 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 41208582 41208582 C G SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.816 p.Q272H 0.965 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 tier1 - - 53 0 0.00 66 5 7.04 ADCK4 0 genome.wustl.edu 37 19 41208582 41208582 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 41208582 41208582 C G SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.816 p.Q272H 0.965 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 tier1 - - 89 0 0.00 66 5 7.04 ADRBK2 0 genome.wustl.edu 37 22 26110499 26110499 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 26110499 26110499 G T SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known missense c.1616 p.R539M 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 30 0 0.00 33 2 5.71 AHDC1 0 genome.wustl.edu 37 1 27875440 27875440 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 27875440 27875440 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.3187 p.V1063I 0.983 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 - - 59 0 0.00 47 7 12.96 AHNAK2 0 genome.wustl.edu 37 14 105418935 105418935 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 105418935 105418935 T G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.2853 p.E951D 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 244 0 0.00 191 13 6.37 AHNAK2 0 genome.wustl.edu 37 14 105420268 105420268 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 105420268 105420268 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.1520 p.R507H 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 103 0 0.00 88 14 13.73 AHNAK2 0 genome.wustl.edu 37 14 105420268 105420268 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 105420268 105420268 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.1520 p.R507H 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 72 0 0.00 88 14 13.73 AJAP1 0 genome.wustl.edu 37 1 4772620 4772620 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 4772620 4772620 G A SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.690 p.T230 0.537 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 tier1 - - 87 0 0.00 59 14 19.18 AK7 0 genome.wustl.edu 37 14 96953364 96953364 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 96953364 96953364 G A SNP AK7 ENST00000267584 human ensembl 74_37 +1 known missense c.2104 p.V702I 0.078 pfam_Dpy-30_motif pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase - no_errors AK7 HGNC ENSG00000140057 tier1 - - 67 0 0.00 92 8 8.00 AK9 0 genome.wustl.edu 37 6 109867151 109867151 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 109867151 109867151 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known silent c.3144 p.N1048 0.069 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 rs151316525 - 110 0 0.00 107 10 8.55 AK9 0 genome.wustl.edu 37 6 109867151 109867151 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 109867151 109867151 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known silent c.3144 p.N1048 0.069 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 rs151316525 - 91 0 0.00 107 10 8.55 AKT1 0 genome.wustl.edu 37 14 105246426 105246426 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 105246426 105246426 C T SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known silent c.174 p.A58 0.432 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 103 0 0.00 72 4 5.19 ALDH18A1 0 genome.wustl.edu 37 10 97386501 97386501 + Nonsense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 97386501 97386501 G A SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known nonsense c.1111 p.R371* 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 tier1 - - 133 0 0.00 84 7 7.69 ALDH18A1 0 genome.wustl.edu 37 10 97386501 97386501 + Nonsense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 97386501 97386501 G A SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known nonsense c.1111 p.R371* 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 tier1 - - 93 0 0.00 84 7 7.69 ALK 0 genome.wustl.edu 37 2 30142898 30142898 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 30142898 30142898 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.628 p.A210T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 140 0 0.00 122 11 8.27 ALK 0 genome.wustl.edu 37 2 30142898 30142898 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 30142898 30142898 C T SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.628 p.A210T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 170 0 0.00 122 11 8.27 ALPP 0 genome.wustl.edu 37 2 233245152 233245152 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 233245152 233245152 G A SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.815 p.R272H 0.748 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 88 0 0.00 45 3 6.25 ALS2CL 0 genome.wustl.edu 37 3 46721932 46721932 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 46721932 46721932 C T SNP ALS2CL ENST00000434140 human ensembl 74_37 -1 known missense c.1532 p.R511Q 0.021 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC ENSG00000178038 tier1 - - 102 0 0.00 91 7 7.14 ALS2CL 0 genome.wustl.edu 37 3 46721932 46721932 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 46721932 46721932 C T SNP ALS2CL ENST00000434140 human ensembl 74_37 -1 known missense c.1532 p.R511Q 0.021 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC ENSG00000178038 tier1 - - 81 0 0.00 91 7 7.14 AMACR 0 genome.wustl.edu 37 5 33989465 33989465 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 33989465 33989465 C A SNP AMACR ENST00000335606 human ensembl 74_37 -1 known silent c.882 p.V294 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 tier1 - - 82 0 0.00 64 6 8.57 AMER3 0 genome.wustl.edu 37 2 131519854 131519854 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 131519854 131519854 C T SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.209 p.A70V 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 tier1 rs200636300 - 130 0 0.00 83 10 10.64 AMOTL2 0 genome.wustl.edu 37 3 134090252 134090252 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 134090252 134090252 C T SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known silent c.24 p.S8 0.577 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 tier1 - - 56 0 0.00 48 6 11.11 AMOTL2 0 genome.wustl.edu 37 3 134090252 134090252 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 134090252 134090252 C T SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known silent c.24 p.S8 0.577 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 tier1 - - 79 0 0.00 48 6 11.11 ANAPC2 0 genome.wustl.edu 37 9 140075323 140075323 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 140075323 140075323 G A SNP ANAPC2 ENST00000323927 human ensembl 74_37 -1 known silent c.1527 p.Y509 0.983 pfam_Cullin_N,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 122 0 0.00 85 5 5.56 ANKK1 0 genome.wustl.edu 37 11 113270849 113270849 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 113270849 113270849 G A SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.2158 p.V720I 0.001 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 tier1 - - 117 0 0.00 101 7 6.48 ANKK1 0 genome.wustl.edu 37 11 113270849 113270849 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 113270849 113270849 G A SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.2158 p.V720I 0.001 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 tier1 - - 95 0 0.00 101 7 6.48 ANKRD30BP2 0 genome.wustl.edu 37 21 14418668 14418668 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 14418668 14418668 T G SNP ANKRD30BP2 ENST00000507941 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 159 0 0.00 147 10 6.37 ANTXR1 0 genome.wustl.edu 37 2 69240707 69240707 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 69240707 69240707 G A SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.76 p.A26T 1.000 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 tier1 - - 114 0 0.00 84 10 10.64 ANTXR1 0 genome.wustl.edu 37 2 69240707 69240707 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 69240707 69240707 G A SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.76 p.A26T 1.000 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 tier1 - - 118 0 0.00 84 10 10.64 APBA2 0 genome.wustl.edu 37 15 29346543 29346543 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 29346543 29346543 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.456 p.H152 0.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 26 0 0.00 10 7 41.18 APH1A 0 genome.wustl.edu 37 1 150238841 150238841 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 150238841 150238841 C T SNP APH1A ENST00000461320 human ensembl 74_37 -1 known rna NULL NULL 0.354 - - - no_errors APH1A HGNC ENSG00000117362 tier1 - - 47 0 0.00 45 4 8.16 APH1A 0 genome.wustl.edu 37 1 150238841 150238841 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 150238841 150238841 C T SNP APH1A ENST00000461320 human ensembl 74_37 -1 known rna NULL NULL 0.354 - - - no_errors APH1A HGNC ENSG00000117362 tier1 - - 69 0 0.00 45 4 8.16 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 99003913 99003913 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 99003913 99003913 C T SNP ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known missense c.997 p.D333N 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 tier1 - - 44 0 0.00 42 6 12.50 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 99003913 99003913 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 99003913 99003913 C T SNP ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known missense c.997 p.D333N 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 tier1 - - 68 0 0.00 42 6 12.50 ARHGAP5 0 genome.wustl.edu 37 14 32621673 32621673 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 32621673 32621673 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.4120 p.V1374I 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 59 0 0.00 65 6 8.45 ASTN1 0 genome.wustl.edu 37 1 176983980 176983980 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 176983980 176983980 C A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1494 p.K498N 1.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 57 0 0.00 58 5 7.94 ATP13A1 0 genome.wustl.edu 37 19 19758523 19758523 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 19758523 19758523 C A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.2678 p.R893L 0.867 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 tier1 - - 31 0 0.00 19 5 20.83 ATP2B4 0 genome.wustl.edu 37 1 203690434 203690434 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 203690434 203690434 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.2708 p.R903H 0.986 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 69 0 0.00 54 5 8.33 ATP6V0A1 0 genome.wustl.edu 37 17 40666416 40666416 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 40666416 40666416 C T SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known silent c.2361 p.T787 0.531 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 53 0 0.00 31 3 8.82 ATXN7L2 0 genome.wustl.edu 37 1 110034715 110034715 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 110034715 110034715 C T SNP ATXN7L2 ENST00000459635 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN7L2 HGNC ENSG00000162650 tier1 - - 53 0 0.00 56 4 6.67 ATXN7L2 0 genome.wustl.edu 37 1 110034715 110034715 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 110034715 110034715 C T SNP ATXN7L2 ENST00000459635 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN7L2 HGNC ENSG00000162650 tier1 - - 94 0 0.00 56 4 6.67 AURKC 0 genome.wustl.edu 37 19 57744904 57744904 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 57744904 57744904 A C SNP AURKC ENST00000302804 human ensembl 74_37 +1 known missense c.512 p.N171T 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 AURKC HGNC ENSG00000105146 tier1 - - 70 0 0.00 69 8 10.39 AURKC 0 genome.wustl.edu 37 19 57744904 57744904 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 57744904 57744904 A C SNP AURKC ENST00000302804 human ensembl 74_37 +1 known missense c.512 p.N171T 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 AURKC HGNC ENSG00000105146 tier1 - - 77 0 0.00 69 8 10.39 B2M 0 genome.wustl.edu 37 15 45007689 45007690 + Frame_Shift_Del DEL TA TA - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 45007689 45007690 TA 0 DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.136_137 p.Y46fs 1.000:1.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 118 0 0.00 84 6 6.67 BACH2 0 genome.wustl.edu 37 6 90642385 90642385 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 90642385 90642385 C T SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known silent c.2268 p.A756 0.059 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 tier1 - - 52 0 0.00 56 11 16.42 BAI1 0 genome.wustl.edu 37 8 143563035 143563035 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 143563035 143563035 G A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.2093 p.R698Q 0.998 pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 73 0 0.00 41 8 16.33 BCCIP 0 genome.wustl.edu 37 10 127520211 127520212 + RNA INS - - T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 127520211 127520212 - T INS BCCIP ENST00000463330 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BCCIP HGNC ENSG00000107949 tier1 31 0 0.00 34 3 8.11 BCOR 0 genome.wustl.edu 37 X 39922265 39922265 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 39922265 39922265 C T SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.3907 p.G1303S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 tier1 - - 42 0 0.00 33 10 23.26 BCOR 0 genome.wustl.edu 37 X 39922265 39922265 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 39922265 39922265 C T SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.3907 p.G1303S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 tier1 - - 46 0 0.00 33 10 23.26 BCR 0 genome.wustl.edu 37 22 23658024 23658025 + RNA INS - - TA TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 23658024 23658025 - TA INS BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.998 - - - no_errors BCR HGNC ENSG00000186716 tier1 48 0 0.00 34 4 10.53 BCR 0 genome.wustl.edu 37 22 23658024 23658025 + RNA INS - - TA TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 23658024 23658025 - TA INS BCR ENST00000436990 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.998 - - - no_errors BCR HGNC ENSG00000186716 tier1 55 0 0.00 34 4 10.53 BHMT 0 genome.wustl.edu 37 5 78411636 78411636 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 78411636 78411636 G T SNP BHMT ENST00000274353 human ensembl 74_37 +1 known missense c.80 p.G27V 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 tier1 - - 130 0 0.00 74 4 5.13 BHMT 0 genome.wustl.edu 37 5 78411636 78411636 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 78411636 78411636 G T SNP BHMT ENST00000274353 human ensembl 74_37 +1 known missense c.80 p.G27V 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 tier1 - - 56 0 0.00 74 4 5.13 BLM 0 genome.wustl.edu 37 15 91303326 91303326 + Frame_Shift_Del DEL T T - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 91303326 91303326 T - DEL BLM ENST00000559724 human ensembl 74_37 +1 known frame_shift_del c.1203 p.F404fs 0.021 NULL NULL - no_errors BLM HGNC ENSG00000197299 tier1 28 0 0.00 33 3 8.33 C10orf71 0 genome.wustl.edu 37 10 50532636 50532636 + Silent SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 50532636 50532636 T G SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known silent c.2046 p.P682 0.000 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 tier1 - - 46 0 0.00 32 10 23.81 C22orf42 0 genome.wustl.edu 37 22 32546459 32546459 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 32546459 32546459 G A SNP C22orf42 ENST00000382097 human ensembl 74_37 -1 known silent c.501 p.V167 0.000 NULL NULL - no_errors C22orf42 HGNC ENSG00000205856 tier1 - - 88 0 0.00 55 6 9.84 C7orf26 0 genome.wustl.edu 37 7 6631456 6631456 + Silent SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 6631456 6631456 G C SNP C7orf26 ENST00000344417 human ensembl 74_37 +1 known silent c.372 p.V124 1.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 tier1 - - 69 0 0.00 59 6 9.23 C7orf26 0 genome.wustl.edu 37 7 6631456 6631456 + Silent SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 6631456 6631456 G C SNP C7orf26 ENST00000344417 human ensembl 74_37 +1 known silent c.372 p.V124 1.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 tier1 - - 70 0 0.00 59 6 9.23 CA9 0 genome.wustl.edu 37 9 35676359 35676359 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 35676359 35676359 C A SNP CA9 ENST00000378357 human ensembl 74_37 +1 known silent c.813 p.G271 0.992 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 75 0 0.00 70 4 5.41 CACNA2D4 0 genome.wustl.edu 37 12 1995136 1995136 + Nonsense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 1995136 1995136 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known nonsense c.1063 p.R355* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 tier1 - - 29 0 0.00 41 9 18.00 CACNA2D4 0 genome.wustl.edu 37 12 1995136 1995136 + Nonsense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 1995136 1995136 G A SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known nonsense c.1063 p.R355* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 tier1 - - 43 0 0.00 41 9 18.00 CALY 0 genome.wustl.edu 37 10 135141459 135141459 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 135141459 135141459 C A SNP CALY ENST00000252939 human ensembl 74_37 -1 known missense c.196 p.D66Y 0.945 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors CALY HGNC ENSG00000130643 76 0 0.00 63 4 5.97 CAMSAP1 0 genome.wustl.edu 37 9 138742207 138742207 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 138742207 138742207 G A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known silent c.942 p.L314 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 tier1 - - 45 0 0.00 58 10 14.71 CAMSAP2 0 genome.wustl.edu 37 1 200817241 200817241 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 200817241 200817241 C A SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known silent c.1377 p.I459 0.377 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 tier1 - - 54 0 0.00 53 5 8.62 CAMSAP2 0 genome.wustl.edu 37 1 200817241 200817241 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 200817241 200817241 C A SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known silent c.1377 p.I459 0.377 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 tier1 - - 60 0 0.00 53 5 8.62 CAPRIN2 0 genome.wustl.edu 37 12 30906600 30906600 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 30906600 30906600 G A SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.98 p.A33V 0.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 tier1 - - 50 0 0.00 25 22 46.81 CASP2 0 genome.wustl.edu 37 7 142991840 142991840 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 142991840 142991840 C T SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known missense c.721 p.H241Y 0.934 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 tier1 - - 46 0 0.00 64 4 5.88 CASP2 0 genome.wustl.edu 37 7 142991840 142991840 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 142991840 142991840 C T SNP CASP2 ENST00000310447 human ensembl 74_37 +1 known missense c.721 p.H241Y 0.934 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP2 HGNC ENSG00000106144 tier1 - - 72 0 0.00 64 4 5.88 CCDC108 0 genome.wustl.edu 37 2 219874718 219874718 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 219874718 219874718 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.4398 p.S1466 0.976 superfamily_PapD-like superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 56 0 0.00 54 4 6.90 CCDC108 0 genome.wustl.edu 37 2 219874718 219874718 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 219874718 219874718 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.4398 p.S1466 0.976 superfamily_PapD-like superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 58 0 0.00 54 4 6.90 CCDC141 0 genome.wustl.edu 37 2 179730546 179730546 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 179730546 179730546 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.2672 p.R891Q 0.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 114 0 0.00 86 6 6.52 CCDC141 0 genome.wustl.edu 37 2 179730546 179730546 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 179730546 179730546 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.2672 p.R891Q 0.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 72 0 0.00 86 6 6.52 CCDC85A 0 genome.wustl.edu 37 2 56611446 56611446 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 56611446 56611446 A G SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.1618 p.I540V 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 72 0 0.00 66 4 5.71 CCDC85A 0 genome.wustl.edu 37 2 56611446 56611446 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 56611446 56611446 A G SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.1618 p.I540V 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 90 0 0.00 66 4 5.71 CD300A 0 genome.wustl.edu 37 17 72469708 72469708 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 72469708 72469708 C T SNP CD300A ENST00000360141 human ensembl 74_37 +1 known missense c.74 p.A25V 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 tier1 rs200229648 - 31 0 0.00 28 5 15.15 CD300A 0 genome.wustl.edu 37 17 72469708 72469708 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 72469708 72469708 C T SNP CD300A ENST00000360141 human ensembl 74_37 +1 known missense c.74 p.A25V 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 tier1 rs200229648 - 56 0 0.00 28 5 15.15 CD300A 0 genome.wustl.edu 37 17 72469942 72469942 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 72469942 72469942 G A SNP CD300A ENST00000360141 human ensembl 74_37 +1 known missense c.308 p.C103Y 0.997 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 tier1 - - 44 0 0.00 50 18 26.47 CD300A 0 genome.wustl.edu 37 17 72469942 72469942 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 72469942 72469942 G A SNP CD300A ENST00000360141 human ensembl 74_37 +1 known missense c.308 p.C103Y 0.997 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 tier1 - - 79 0 0.00 50 18 26.47 CD93 0 genome.wustl.edu 37 20 23066727 23066727 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 23066727 23066727 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.103 p.A35T 1.000 pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 tier1 - - 37 0 0.00 41 4 8.89 CDC27 0 genome.wustl.edu 37 17 45216210 45216210 + Silent SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 45216210 45216210 A C SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known silent c.1617 p.V539 0.877 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 51 0 0.00 55 3 5.17 CDH2 0 genome.wustl.edu 37 18 25532209 25532209 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 25532209 25532209 T G SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.2629 p.S877R 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 - - 65 0 0.00 77 8 9.41 CDH8 0 genome.wustl.edu 37 16 61854976 61854976 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 61854976 61854976 T C SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.877 p.T293A 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 60 0 0.00 46 5 9.80 CDH8 0 genome.wustl.edu 37 16 61854976 61854976 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 61854976 61854976 T C SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.877 p.T293A 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 64 0 0.00 46 5 9.80 CDH9 0 genome.wustl.edu 37 5 26915774 26915774 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 26915774 26915774 A C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.487 p.L163V 0.355 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 23 0 0.00 21 19 47.50 CDH9 0 genome.wustl.edu 37 5 26915774 26915774 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 26915774 26915774 A C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.487 p.L163V 0.355 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 35 0 0.00 21 19 47.50 CDR1 0 genome.wustl.edu 37 X 139866465 139866465 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 139866465 139866465 C T SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known missense c.67 p.E23K 0.853 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 tier1 - - 51 0 0.00 66 12 15.38 CDR1 0 genome.wustl.edu 37 X 139866465 139866465 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 139866465 139866465 C T SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known missense c.67 p.E23K 0.853 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 tier1 - - 53 0 0.00 66 12 15.38 CDR2 0 genome.wustl.edu 37 16 22358784 22358784 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 22358784 22358784 G A SNP CDR2 ENST00000268383 human ensembl 74_37 -1 known silent c.867 p.S289 0.998 NULL NULL - no_errors CDR2 HGNC ENSG00000140743 91 0 0.00 56 4 6.67 CELF2 0 genome.wustl.edu 37 10 11330403 11330403 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 11330403 11330403 G A SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known silent c.864 p.Q288 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 tier1 - - 28 0 0.00 30 7 18.92 CENPO 0 genome.wustl.edu 37 2 25016736 25016736 + RNA SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 25016736 25016736 C G SNP CENPO ENST00000473476 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CENPO HGNC ENSG00000138092 tier1 - - 114 0 0.00 95 7 6.80 CENPO 0 genome.wustl.edu 37 2 25016736 25016736 + RNA SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 25016736 25016736 C G SNP CENPO ENST00000473476 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CENPO HGNC ENSG00000138092 tier1 - - 90 0 0.00 95 7 6.80 CEP135 0 genome.wustl.edu 37 4 56884024 56884024 + Splice_Site SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 56884024 56884024 G C SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known splice_site c.3012+1 e21+1 1.000 - - - no_errors CEP135 HGNC ENSG00000174799 tier1 - - 13 0 0.00 24 8 25.00 CES4A 0 genome.wustl.edu 37 16 67039242 67039242 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 67039242 67039242 G T SNP CES4A ENST00000326686 human ensembl 74_37 +1 known missense c.1261 p.V421F 0.921 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 tier1 - - 72 0 0.00 53 4 7.02 CHST1 0 genome.wustl.edu 37 11 45670506 45670507 + RNA INS - - T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 45670506 45670507 - T INS CHST1 ENST00000533673 human ensembl 74_37 -1 known rna NULL NULL 0.924:0.922 - - - no_errors CHST1 HGNC ENSG00000175264 tier1 43 0 0.00 30 5 14.29 CHST2 0 genome.wustl.edu 37 3 142840240 142840240 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 142840240 142840240 C T SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known silent c.582 p.Y194 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 tier1 - - 71 0 0.00 55 14 19.72 CHST2 0 genome.wustl.edu 37 3 142840240 142840240 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 142840240 142840240 C T SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known silent c.582 p.Y194 0.998 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 tier1 - - 77 0 0.00 55 14 19.72 CNTD2 0 genome.wustl.edu 37 19 40729351 40729351 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 40729351 40729351 G C SNP CNTD2 ENST00000430325 human ensembl 74_37 -1 known missense c.616 p.P206A 0.133 superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CNTD2 HGNC ENSG00000105219 66 0 0.00 36 4 10.00 CNTN5 0 genome.wustl.edu 37 11 100126539 100126539 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 100126539 100126539 A C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2053 p.S685R 0.888 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,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 CNTN5 HGNC ENSG00000149972 tier1 - - 102 0 0.00 65 7 9.72 CNTNAP5 0 genome.wustl.edu 37 2 125192143 125192143 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 125192143 125192143 G A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.612 p.V204 0.993 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 45 0 0.00 41 3 6.82 COL24A1 0 genome.wustl.edu 37 1 86591748 86591748 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 86591748 86591748 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.271 p.E91K 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 - - 33 0 0.00 37 9 19.57 COL24A1 0 genome.wustl.edu 37 1 86591748 86591748 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 86591748 86591748 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.271 p.E91K 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 - - 55 0 0.00 37 9 19.57 COL6A2 0 genome.wustl.edu 37 21 47536710 47536710 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 47536710 47536710 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known silent c.981 p.N327 0.126 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 rs147326531 - 84 0 0.00 75 7 8.54 COL6A3 0 genome.wustl.edu 37 2 238275718 238275718 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 238275718 238275718 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.5112 p.D1704 0.039 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 64 0 0.00 63 5 7.35 COL6A3 0 genome.wustl.edu 37 2 238275718 238275718 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 238275718 238275718 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.5112 p.D1704 0.039 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 82 0 0.00 63 5 7.35 CPB1 0 genome.wustl.edu 37 3 148552396 148552396 + Nonsense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 148552396 148552396 G T SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known nonsense c.259 p.E87* 0.325 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 61 0 0.00 75 4 5.06 CPS1 0 genome.wustl.edu 37 2 211447374 211447374 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 211447374 211447374 C A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.580 p.Q194K 1.000 superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu 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 - - 79 0 0.00 82 6 6.82 CPS1 0 genome.wustl.edu 37 2 211447374 211447374 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 211447374 211447374 C A SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.580 p.Q194K 1.000 superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu 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 - - 98 0 0.00 82 6 6.82 CRYBB1 0 genome.wustl.edu 37 22 27012261 27012261 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 27012261 27012261 G A SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.23 p.S8L 0.096 NULL pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 tier1 - - 69 0 0.00 49 10 16.95 CSMD3 0 genome.wustl.edu 37 8 113249500 113249500 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 113249500 113249500 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10546 p.L3516V 0.950 NULL 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 - - 70 0 0.00 75 10 11.76 CSMD3 0 genome.wustl.edu 37 8 113249500 113249500 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 113249500 113249500 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10546 p.L3516V 0.950 NULL 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 - - 92 0 0.00 75 10 11.76 CST1 0 genome.wustl.edu 37 20 23729656 23729656 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 23729656 23729656 C G SNP CST1 ENST00000304749 human ensembl 74_37 -1 known missense c.339 p.Q113H 0.026 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 tier1 - - 141 0 0.00 177 25 12.38 CTNND2 0 genome.wustl.edu 37 5 11384850 11384850 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 11384850 11384850 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.1104 p.A368 0.996 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 107 0 0.00 41 12 22.64 CTNND2 0 genome.wustl.edu 37 5 11384850 11384850 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 11384850 11384850 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.1104 p.A368 0.996 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 43 0 0.00 41 12 22.64 CTR9 0 genome.wustl.edu 37 11 10785713 10785713 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 10785713 10785713 G C SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.1249 p.E417Q 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 tier1 - - 100 0 0.00 102 10 8.93 CTR9 0 genome.wustl.edu 37 11 10785713 10785713 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 10785713 10785713 G C SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.1249 p.E417Q 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 tier1 - - 116 0 0.00 102 10 8.93 CUTC 0 genome.wustl.edu 37 10 101502959 101502959 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 101502959 101502959 G T SNP CUTC ENST00000370476 human ensembl 74_37 +1 known missense c.243 p.M81I 1.000 pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom - no_errors CUTC HGNC ENSG00000119929 tier1 - - 80 0 0.00 67 7 9.46 CUTC 0 genome.wustl.edu 37 10 101502959 101502959 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 101502959 101502959 G T SNP CUTC ENST00000370476 human ensembl 74_37 +1 known missense c.243 p.M81I 1.000 pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom - no_errors CUTC HGNC ENSG00000119929 tier1 - - 87 0 0.00 67 7 9.46 CWF19L2 0 genome.wustl.edu 37 11 107299528 107299528 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 107299528 107299528 G A SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.1430 p.A477V 0.319 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 - - 73 0 0.00 85 11 11.46 CWF19L2 0 genome.wustl.edu 37 11 107299528 107299528 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 107299528 107299528 G A SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.1430 p.A477V 0.319 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 - - 79 0 0.00 85 11 11.46 CX3CR1 0 genome.wustl.edu 37 3 39306949 39306949 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 39306949 39306949 G A SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known missense c.1148 p.A383V 0.000 prints_Chemokine_CX3CR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 54 0 0.00 29 2 6.45 CYB561D2 0 genome.wustl.edu 37 3 50388920 50388920 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 50388920 50388920 C T SNP CYB561D2 ENST00000232508 human ensembl 74_37 +1 known missense c.56 p.S19F 0.999 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561D2 HGNC ENSG00000114395 tier1 - - 67 0 0.00 56 18 24.32 CYB561D2 0 genome.wustl.edu 37 3 50388920 50388920 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 50388920 50388920 C T SNP CYB561D2 ENST00000232508 human ensembl 74_37 +1 known missense c.56 p.S19F 0.999 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561D2 HGNC ENSG00000114395 tier1 - - 83 0 0.00 56 18 24.32 CYP4F22 0 genome.wustl.edu 37 19 15648458 15648458 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 15648458 15648458 C T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known silent c.534 p.S178 0.035 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 44 0 0.00 15 3 16.67 CYP4F8 0 genome.wustl.edu 37 19 15740032 15740032 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 15740032 15740032 C T SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.170 - - - no_errors CYP4F8 HGNC ENSG00000186526 tier1 - - 106 0 0.00 64 4 5.88 DBNL 0 genome.wustl.edu 37 7 44099013 44099013 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 44099013 44099013 G A SNP DBNL ENST00000468694 human ensembl 74_37 +1 known missense c.923 p.R308K 0.014 superfamily_SH3_domain pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 tier1 - - 69 0 0.00 47 6 11.32 DBNL 0 genome.wustl.edu 37 7 44099013 44099013 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 44099013 44099013 G A SNP DBNL ENST00000468694 human ensembl 74_37 +1 known missense c.923 p.R308K 0.014 superfamily_SH3_domain pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 tier1 - - 70 0 0.00 47 6 11.32 DCDC1 0 genome.wustl.edu 37 11 30914499 30914499 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 30914499 30914499 G A SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.1153 p.P385S 0.005 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 74 0 0.00 53 6 10.17 DCDC1 0 genome.wustl.edu 37 11 30914499 30914499 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 30914499 30914499 G A SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.1153 p.P385S 0.005 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 78 0 0.00 53 6 10.17 DCK 0 genome.wustl.edu 37 4 71889385 71889385 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 71889385 71889385 G A SNP DCK ENST00000286648 human ensembl 74_37 +1 known missense c.511 p.E171K 1.000 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase - no_errors DCK HGNC ENSG00000156136 tier1 - - 89 0 0.00 95 10 9.52 DDX56 0 genome.wustl.edu 37 7 44612216 44612216 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 44612216 44612216 G A SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.511 p.L171F 0.997 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX56 HGNC ENSG00000136271 tier1 - - 56 0 0.00 44 4 8.33 DENND1B 0 genome.wustl.edu 37 1 197611873 197611873 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 197611873 197611873 G T SNP DENND1B ENST00000367396 human ensembl 74_37 -1 known missense c.640 p.R214S 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 - no_errors DENND1B HGNC ENSG00000213047 54 0 0.00 61 4 6.15 DKFZP434H168 0 genome.wustl.edu 37 16 56228332 56228332 + RNA SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 56228332 56228332 G A SNP DKFZP434H168 ENST00000567381 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2050B12.2 Clone_based_vega_gene ENSG00000261439 tier1 - - 12 0 0.00 14 4 22.22 DLEU2 0 genome.wustl.edu 37 13 50618818 50618819 + RNA INS - - T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 50618818 50618819 - T INS DLEU2 ENST00000235290 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors DLEU2 HGNC ENSG00000231607 tier1 20 0 0.00 41 6 12.77 DLG2 0 genome.wustl.edu 37 11 83676493 83676493 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 83676493 83676493 C T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1075 p.E359K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 53 0 0.00 82 8 8.89 DLG2 0 genome.wustl.edu 37 11 83676493 83676493 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 83676493 83676493 C T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.1075 p.E359K 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 60 0 0.00 82 8 8.89 DNAH14 0 genome.wustl.edu 37 1 225152209 225152209 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 225152209 225152209 T G SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.396 p.N132K 0.834 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 120 0 0.00 125 10 7.41 DNAH14 0 genome.wustl.edu 37 1 225152209 225152209 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 225152209 225152209 T G SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.396 p.N132K 0.834 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 92 0 0.00 125 10 7.41 DNAH8 0 genome.wustl.edu 37 6 38718294 38718294 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 38718294 38718294 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.685 p.E229K 1.000 pfam_Dynein_heavy_dom-1 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 DNAH8 HGNC ENSG00000124721 tier1 - - 48 0 0.00 92 8 8.00 DNAH8 0 genome.wustl.edu 37 6 38718294 38718294 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 38718294 38718294 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.685 p.E229K 1.000 pfam_Dynein_heavy_dom-1 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 DNAH8 HGNC ENSG00000124721 tier1 - - 52 0 0.00 92 8 8.00 DNAJC21 0 genome.wustl.edu 37 5 34933927 34933927 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 34933927 34933927 T A SNP DNAJC21 ENST00000382021 human ensembl 74_37 +1 known missense c.105 p.N35K 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC21 HGNC ENSG00000168724 25 0 0.00 43 7 14.00 DOCK4 0 genome.wustl.edu 37 7 111624408 111624408 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 111624408 111624408 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.502 p.A168T 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 49 0 0.00 46 7 13.21 DOPEY1 0 genome.wustl.edu 37 6 83847209 83847209 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 83847209 83847209 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known nonsense c.3448 p.Q1150* 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 tier1 - - 55 0 0.00 58 6 9.38 DOPEY1 0 genome.wustl.edu 37 6 83847209 83847209 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 83847209 83847209 C T SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known nonsense c.3448 p.Q1150* 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 tier1 - - 68 0 0.00 58 6 9.38 DPH5 0 genome.wustl.edu 37 1 101456100 101456100 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 101456100 101456100 C T SNP DPH5 ENST00000370109 human ensembl 74_37 -1 known missense c.722 p.C241Y 0.701 superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase - no_errors DPH5 HGNC ENSG00000117543 tier1 - - 53 0 0.00 48 4 7.69 DPH5 0 genome.wustl.edu 37 1 101456100 101456100 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 101456100 101456100 C T SNP DPH5 ENST00000370109 human ensembl 74_37 -1 known missense c.722 p.C241Y 0.701 superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase - no_errors DPH5 HGNC ENSG00000117543 tier1 - - 82 0 0.00 48 4 7.69 DPY19L2P4 0 genome.wustl.edu 37 7 89753452 89753452 + RNA SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 89753452 89753452 G T SNP DPY19L2P4 ENST00000497063 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DPY19L2P4 HGNC ENSG00000235436 64 0 0.00 74 4 5.06 DTD2 0 genome.wustl.edu 37 14 31917469 31917469 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 31917469 31917469 G C SNP DTD2 ENST00000310850 human ensembl 74_37 -1 known missense c.373 p.L125V 0.989 pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom - no_errors DTD2 HGNC ENSG00000129480 tier1 - - 102 0 0.00 105 10 8.70 DTD2 0 genome.wustl.edu 37 14 31917469 31917469 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 31917469 31917469 G C SNP DTD2 ENST00000310850 human ensembl 74_37 -1 known missense c.373 p.L125V 0.989 pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom - no_errors DTD2 HGNC ENSG00000129480 tier1 - - 78 0 0.00 105 10 8.70 DTYMK 0 genome.wustl.edu 37 2 242617947 242617947 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 242617947 242617947 G A SNP DTYMK ENST00000305784 human ensembl 74_37 -1 known missense c.448 p.R150C 0.998 superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase - no_errors DTYMK HGNC ENSG00000168393 tier1 - - 40 0 0.00 29 6 17.14 DTYMK 0 genome.wustl.edu 37 2 242617947 242617947 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 242617947 242617947 G A SNP DTYMK ENST00000305784 human ensembl 74_37 -1 known missense c.448 p.R150C 0.998 superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase superfamily_P-loop_NTPase,tigrfam_Thymidylate_kinase - no_errors DTYMK HGNC ENSG00000168393 tier1 - - 44 0 0.00 29 6 17.14 DYNC1I1 0 genome.wustl.edu 37 7 95625347 95625347 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 95625347 95625347 T G SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known missense c.982 p.F328V 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 tier1 - - 117 0 0.00 96 14 12.73 DYNC1I1 0 genome.wustl.edu 37 7 95625347 95625347 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 95625347 95625347 T G SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known missense c.982 p.F328V 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 tier1 - - 81 0 0.00 96 14 12.73 DYNC2H1 0 genome.wustl.edu 37 11 103048317 103048317 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 103048317 103048317 A T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.5907 p.L1969F 0.997 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 71 0 0.00 90 15 14.29 DYNC2H1 0 genome.wustl.edu 37 11 103270418 103270418 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 103270418 103270418 C T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.12205 p.P4069S 0.996 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 39 0 0.00 83 5 5.68 DYNC2H1 0 genome.wustl.edu 37 11 103270418 103270418 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 103270418 103270418 C T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.12205 p.P4069S 0.996 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 61 0 0.00 83 5 5.68 EEF1D 0 genome.wustl.edu 37 8 144662317 144662317 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 144662317 144662317 G A SNP EEF1D ENST00000532400 human ensembl 74_37 -1 novel missense c.119 p.T40M 0.984 NULL NULL - no_errors EEF1D HGNC ENSG00000104529 tier1 - - 71 0 0.00 46 11 19.30 EFCC1 0 genome.wustl.edu 37 3 128720904 128720904 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 128720904 128720904 T C SNP EFCC1 ENST00000480450 human ensembl 74_37 +1 novel missense c.433 p.F145L 1.000 NULL pfscan_EF_hand_dom - no_errors EFCC1 HGNC ENSG00000114654 tier1 - - 16 0 0.00 10 4 28.57 EFHD1 0 genome.wustl.edu 37 2 233546386 233546386 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 233546386 233546386 G A SNP EFHD1 ENST00000264059 human ensembl 74_37 +1 known missense c.677 p.R226H 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD1 HGNC ENSG00000115468 tier1 - - 100 0 0.00 81 9 10.00 EFHD1 0 genome.wustl.edu 37 2 233546386 233546386 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 233546386 233546386 G A SNP EFHD1 ENST00000264059 human ensembl 74_37 +1 known missense c.677 p.R226H 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD1 HGNC ENSG00000115468 tier1 - - 167 0 0.00 81 9 10.00 ELOVL4 0 genome.wustl.edu 37 6 80631343 80631343 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 80631343 80631343 T G SNP ELOVL4 ENST00000369816 human ensembl 74_37 -1 known missense c.540 p.Q180H 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC ENSG00000118402 tier1 - - 57 0 0.00 86 8 8.51 ENO2 0 genome.wustl.edu 37 12 7026211 7026211 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 7026211 7026211 G A SNP ENO2 ENST00000229277 human ensembl 74_37 +1 known missense c.250 p.V84M 0.998 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 tier1 - - 54 0 0.00 68 7 9.33 ENO2 0 genome.wustl.edu 37 12 7026211 7026211 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 7026211 7026211 G A SNP ENO2 ENST00000229277 human ensembl 74_37 +1 known missense c.250 p.V84M 0.998 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 tier1 - - 84 0 0.00 68 7 9.33 ENPP1 0 genome.wustl.edu 37 6 132172307 132172307 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 132172307 132172307 C T SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known silent c.456 p.F152 0.994 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 tier1 - - 70 0 0.00 60 4 6.25 ENPP2 0 genome.wustl.edu 37 8 120608164 120608164 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 120608164 120608164 G T SNP ENPP2 ENST00000259486 human ensembl 74_37 -1 known missense c.1051 p.P351T 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 tier1 - - 94 0 0.00 95 19 16.67 ENSG00000216114 0 genome.wustl.edu 37 X 138681442 138681442 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 138681442 138681442 T G SNP ENSG00000216114 ENST00000401295 human ensembl 74_37 -1 novel rna NULL NULL 0.150 - - - no_errors AL033403.1 Clone_based_ensembl_gene ENSG00000216114 tier1 - - 41 0 0.00 42 10 19.23 ENSG00000216114 0 genome.wustl.edu 37 X 138681442 138681442 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 138681442 138681442 T G SNP ENSG00000216114 ENST00000401295 human ensembl 74_37 -1 novel rna NULL NULL 0.150 - - - no_errors AL033403.1 Clone_based_ensembl_gene ENSG00000216114 tier1 - - 42 0 0.00 42 10 19.23 ENSG00000221280 0 genome.wustl.edu 37 12 118604652 118604653 + RNA INS - - ACAC TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 118604652 118604653 - ACAC INS ENSG00000221280 ENST00000408353 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.000 - - - no_errors AC026366.1 Clone_based_ensembl_gene ENSG00000221280 tier1 10 0 0.00 4 2 33.33 ENSG00000228980 0 genome.wustl.edu 37 3 109129037 109129037 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 109129037 109129037 C T SNP ENSG00000228980 ENST00000489670 human ensembl 74_37 +1 known rna NULL NULL 0.130 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000228980 tier1 - - 38 0 0.00 33 5 13.16 ENSG00000228980 0 genome.wustl.edu 37 3 109129037 109129037 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 109129037 109129037 C T SNP ENSG00000228980 ENST00000489670 human ensembl 74_37 +1 known rna NULL NULL 0.130 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000228980 tier1 - - 54 0 0.00 33 5 13.16 ENSG00000228998 0 genome.wustl.edu 37 15 90820758 90820758 + RNA SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 90820758 90820758 C A SNP ENSG00000228998 ENST00000411845 human ensembl 74_37 +1 known rna NULL NULL 0.769 - - - no_errors RP11-697E2.7 Clone_based_vega_gene ENSG00000228998 tier1 - - 21 0 0.00 11 3 21.43 ENSG00000236358 0 genome.wustl.edu 37 1 234492764 234492764 + RNA SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 234492764 234492764 G A SNP ENSG00000236358 ENST00000425104 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-827C21.2 Clone_based_vega_gene ENSG00000236358 tier1 - - 123 0 0.00 61 11 15.28 ENSG00000236358 0 genome.wustl.edu 37 1 234492764 234492764 + RNA SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 234492764 234492764 G A SNP ENSG00000236358 ENST00000425104 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-827C21.2 Clone_based_vega_gene ENSG00000236358 tier1 - - 83 0 0.00 61 11 15.28 ENSG00000239395 0 genome.wustl.edu 37 1 247886392 247886392 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 247886392 247886392 T G SNP ENSG00000239395 ENST00000426444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-634B7.5 Clone_based_vega_gene ENSG00000239395 tier1 - - 66 0 0.00 109 12 9.84 ENSG00000241125 0 genome.wustl.edu 37 10 38466857 38466857 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 38466857 38466857 C T SNP ENSG00000241125 ENST00000419779 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-508N22.9 Clone_based_vega_gene ENSG00000241125 tier1 - - 121 0 0.00 159 10 5.92 ENSG00000241125 0 genome.wustl.edu 37 10 38466857 38466857 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 38466857 38466857 C T SNP ENSG00000241125 ENST00000419779 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-508N22.9 Clone_based_vega_gene ENSG00000241125 tier1 - - 139 0 0.00 159 10 5.92 ENSG00000242663 0 genome.wustl.edu 37 1 149754533 149754533 + RNA SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 149754533 149754533 G A SNP ENSG00000242663 ENST00000420462 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-196G18.21 Clone_based_vega_gene ENSG00000242663 tier1 - - 37 0 0.00 29 6 17.14 ENSG00000254469 0 genome.wustl.edu 37 11 71629946 71629946 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 71629946 71629946 C T SNP ENSG00000254469 ENST00000529513 human ensembl 74_37 -1 putative missense c.172 p.G58S 0.995 pfam_Xrcc1_N,superfamily_Galactose-bd-like pfam_Xrcc1_N,superfamily_Galactose-bd-like - no_errors RP11-849H4.2 Clone_based_vega_gene ENSG00000254469 tier1 - - 47 0 0.00 42 7 14.29 ENSG00000254469 0 genome.wustl.edu 37 11 71629946 71629946 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 71629946 71629946 C T SNP ENSG00000254469 ENST00000529513 human ensembl 74_37 -1 putative missense c.172 p.G58S 0.995 pfam_Xrcc1_N,superfamily_Galactose-bd-like pfam_Xrcc1_N,superfamily_Galactose-bd-like - no_errors RP11-849H4.2 Clone_based_vega_gene ENSG00000254469 tier1 - - 54 0 0.00 42 7 14.29 ENSG00000257434 0 genome.wustl.edu 37 12 75435999 75435999 + RNA SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 75435999 75435999 A T SNP ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 rs7969026 - 38 0 0.00 33 4 10.81 ENSG00000261759 0 genome.wustl.edu 37 16 19132383 19132383 + RNA SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 19132383 19132383 A T SNP ENSG00000261759 ENST00000567236 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 tier1 - - 37 0 0.00 73 7 8.64 ENSG00000261759 0 genome.wustl.edu 37 16 19132383 19132383 + RNA SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 19132383 19132383 A T SNP ENSG00000261759 ENST00000567236 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 tier1 - - 49 0 0.00 73 7 8.64 ENSG00000267207 0 genome.wustl.edu 37 17 59147396 59147396 + RNA SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 59147396 59147396 G C SNP ENSG00000267207 ENST00000588604 human ensembl 74_37 -1 known rna NULL NULL 0.861 - - - no_errors RP11-264B14.1 Clone_based_vega_gene ENSG00000267207 tier1 - - 116 0 0.00 82 14 14.58 ENSG00000267207 0 genome.wustl.edu 37 17 59147396 59147396 + RNA SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 59147396 59147396 G C SNP ENSG00000267207 ENST00000588604 human ensembl 74_37 -1 known rna NULL NULL 0.861 - - - no_errors RP11-264B14.1 Clone_based_vega_gene ENSG00000267207 tier1 - - 122 0 0.00 82 14 14.58 ENSG00000272884 0 genome.wustl.edu 37 17 7348268 7348268 + RNA SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 7348268 7348268 C A SNP ENSG00000272884 ENST00000575331 human ensembl 74_37 +1 known rna NULL NULL 0.755 - - - no_errors RP11-104H15.10 Clone_based_vega_gene ENSG00000272884 tier1 - - 32 0 0.00 36 6 14.29 ENSG00000272884 0 genome.wustl.edu 37 17 7348268 7348268 + RNA SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 7348268 7348268 C A SNP ENSG00000272884 ENST00000575331 human ensembl 74_37 +1 known rna NULL NULL 0.755 - - - no_errors RP11-104H15.10 Clone_based_vega_gene ENSG00000272884 tier1 - - 78 0 0.00 36 6 14.29 EP400 0 genome.wustl.edu 37 12 132547138 132547138 + Silent SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 132547138 132547138 A G SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8334 p.Q2778 0.021 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 rs111782215 - 23 0 0.00 28 7 20.00 EP400 0 genome.wustl.edu 37 12 132547141 132547141 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 132547141 132547141 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8337 p.Q2779 0.737 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 - - 24 0 0.00 28 4 12.50 EPB41L1 0 genome.wustl.edu 37 20 34778659 34778659 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 34778659 34778659 G A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.1240 p.A414T 0.998 pfam_FERM-adjacent,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 tier1 - - 45 0 0.00 55 4 6.78 EPB41L1 0 genome.wustl.edu 37 20 34778659 34778659 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 34778659 34778659 G A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.1240 p.A414T 0.998 pfam_FERM-adjacent,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 tier1 - - 57 0 0.00 55 4 6.78 EPB41L4B 0 genome.wustl.edu 37 9 111970305 111970305 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 111970305 111970305 T C SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.1777 p.K593E 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 tier1 - - 53 0 0.00 66 5 7.04 EPB41L4B 0 genome.wustl.edu 37 9 111970305 111970305 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 111970305 111970305 T C SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.1777 p.K593E 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 tier1 - - 71 0 0.00 66 5 7.04 EPHA4 0 genome.wustl.edu 37 2 222347086 222347086 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 222347086 222347086 G A SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.1304 p.T435I 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 tier1 - - 84 0 0.00 69 8 10.39 EPHA5 0 genome.wustl.edu 37 4 66230835 66230835 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 66230835 66230835 G T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.2136 p.G712 0.803 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 108 0 0.00 130 9 6.47 EPHA5 0 genome.wustl.edu 37 4 66230835 66230835 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 66230835 66230835 G T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.2136 p.G712 0.803 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 99 0 0.00 130 9 6.47 EPHA5 0 genome.wustl.edu 37 4 66356133 66356133 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 66356133 66356133 C T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.1364 p.R455Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 51 0 0.00 34 5 12.82 EPHB4 0 genome.wustl.edu 37 7 100403299 100403299 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 100403299 100403299 T A SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2502 p.E834D 0.993 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 tier1 - - 109 0 0.00 72 7 8.86 EPHB4 0 genome.wustl.edu 37 7 100403299 100403299 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 100403299 100403299 T A SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2502 p.E834D 0.993 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 tier1 - - 48 0 0.00 72 7 8.86 ERC1 0 genome.wustl.edu 37 12 1399080 1399080 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 1399080 1399080 G T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.2682 p.K894N 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 tier1 - - 65 0 0.00 76 12 13.64 ERC1 0 genome.wustl.edu 37 12 1399080 1399080 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 1399080 1399080 G T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.2682 p.K894N 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 tier1 - - 81 0 0.00 76 12 13.64 ERVW-1 0 genome.wustl.edu 37 7 92099221 92099221 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 92099221 92099221 G A SNP ERVW-1 ENST00000493463 human ensembl 74_37 -1 known missense c.475 p.R159C 0.415 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 70 0 0.00 62 9 12.68 EXD2 0 genome.wustl.edu 37 14 69704507 69704507 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 69704507 69704507 G A SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1508 p.R503H 1.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 tier1 rs138036015 - 29 0 0.00 31 7 18.42 EXD2 0 genome.wustl.edu 37 14 69704507 69704507 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 69704507 69704507 G A SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.1508 p.R503H 1.000 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 tier1 rs138036015 - 48 0 0.00 31 7 18.42 EXOSC4 0 genome.wustl.edu 37 8 145135027 145135027 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 145135027 145135027 G A SNP EXOSC4 ENST00000316052 human ensembl 74_37 +1 known missense c.353 p.R118H 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC4 HGNC ENSG00000178896 tier1 - - 38 0 0.00 36 8 18.18 FAM138D 0 genome.wustl.edu 37 12 147969 147969 + RNA DEL T T - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 147969 147969 T - DEL FAM138D ENST00000320165 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors FAM138D HGNC ENSG00000206114 tier1 8 0 0.00 12 8 40.00 FAM13A 0 genome.wustl.edu 37 4 89941735 89941735 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 89941735 89941735 G T SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known silent c.303 p.P101 0.001 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 54 0 0.00 51 3 5.56 FAM13C 0 genome.wustl.edu 37 10 61043173 61043173 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 61043173 61043173 G A SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.542 p.P181L 0.215 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 tier1 - - 67 0 0.00 60 5 7.69 FAM160A2 0 genome.wustl.edu 37 11 6238867 6238867 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 6238867 6238867 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1991 p.R664H 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 tier1 - - 19 0 0.00 17 5 22.73 FAM208B 0 genome.wustl.edu 37 10 5789017 5789017 + Silent SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 5789017 5789017 C G SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.3633 p.A1211 0.027 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 21 0 0.00 24 3 11.11 FAM84B 0 genome.wustl.edu 37 8 127565206 127565206 + RNA SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 127565206 127565206 G C SNP FAM84B ENST00000517458 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM84B HGNC ENSG00000168672 tier1 - - 77 0 0.00 92 8 8.00 FAM84B 0 genome.wustl.edu 37 8 127565206 127565206 + RNA SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 127565206 127565206 G C SNP FAM84B ENST00000517458 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM84B HGNC ENSG00000168672 tier1 - - 97 0 0.00 92 8 8.00 FAM84B 0 genome.wustl.edu 37 8 127565233 127565233 + RNA SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 127565233 127565233 G C SNP FAM84B ENST00000517458 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM84B HGNC ENSG00000168672 tier1 - - 47 0 0.00 71 8 10.13 FAM84B 0 genome.wustl.edu 37 8 127565233 127565233 + RNA SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 127565233 127565233 G C SNP FAM84B ENST00000517458 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM84B HGNC ENSG00000168672 tier1 - - 70 0 0.00 71 8 10.13 FAN1 0 genome.wustl.edu 37 15 31214550 31214550 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 31214550 31214550 T C SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.2165 p.L722P 0.169 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 tier1 - - 57 0 0.00 55 5 8.33 FAN1 0 genome.wustl.edu 37 15 31214550 31214550 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 31214550 31214550 T C SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known missense c.2165 p.L722P 0.169 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 tier1 - - 61 0 0.00 55 5 8.33 FBXL20 0 genome.wustl.edu 37 17 37441733 37441733 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 37441733 37441733 C T SNP FBXL20 ENST00000264658 human ensembl 74_37 -1 known silent c.492 p.L164 0.998 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL20 HGNC ENSG00000108306 tier1 - - 104 0 0.00 128 11 7.86 FBXL20 0 genome.wustl.edu 37 17 37441733 37441733 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 37441733 37441733 C T SNP FBXL20 ENST00000264658 human ensembl 74_37 -1 known silent c.492 p.L164 0.998 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL20 HGNC ENSG00000108306 tier1 - - 154 0 0.00 128 11 7.86 FCGBP 0 genome.wustl.edu 37 19 40408618 40408618 + Silent SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 40408618 40408618 T C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.4221 p.S1407 0.000 pfam_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 176 0 0.00 181 22 10.84 FCGBP 0 genome.wustl.edu 37 19 40408618 40408618 + Silent SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 40408618 40408618 T C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.4221 p.S1407 0.000 pfam_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 225 0 0.00 181 22 10.84 FCRL6 0 genome.wustl.edu 37 1 159785374 159785374 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 159785374 159785374 G T SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.1228 p.V410F 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 tier1 - - 40 0 0.00 58 4 6.45 FCRL6 0 genome.wustl.edu 37 1 159785374 159785374 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 159785374 159785374 G T SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.1228 p.V410F 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 tier1 - - 65 0 0.00 58 4 6.45 FDPS 0 genome.wustl.edu 37 1 155288467 155288467 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 155288467 155288467 G A SNP FDPS ENST00000356657 human ensembl 74_37 +1 known silent c.696 p.Q232 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 tier1 - - 78 0 0.00 66 10 13.16 FDXACB1 0 genome.wustl.edu 37 11 111747584 111747584 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 111747584 111747584 C T SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known missense c.481 p.V161M 0.917 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 58 0 0.00 58 4 6.45 FGF18 0 genome.wustl.edu 37 5 170883662 170883662 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 170883662 170883662 G A SNP FGF18 ENST00000274625 human ensembl 74_37 +1 known silent c.477 p.P159 0.041 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF18 HGNC ENSG00000156427 tier1 - - 45 0 0.00 33 5 13.16 FIBCD1 0 genome.wustl.edu 37 9 133787269 133787270 + Frame_Shift_Ins INS - - A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 133787269 133787270 - A INS FIBCD1 ENST00000372338 human ensembl 74_37 -1 known frame_shift_ins c.856_855 p.Q285fs 1.000:0.704 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 tier1 153 0 0.00 94 13 12.15 FNBP4 0 genome.wustl.edu 37 11 47744591 47744591 + Silent SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 47744591 47744591 A T SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known silent c.2742 p.P914 0.174 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 54 0 0.00 45 3 6.25 FOXA1 0 genome.wustl.edu 37 14 38064348 38064350 + RNA DEL GCG GCG - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 38064348 38064350 GCG - DEL FOXA1 ENST00000557418 human ensembl 74_37 -1 known rna NULL NULL 0.998:0.994:0.997 - - - no_errors FOXA1 HGNC ENSG00000129514 tier1 9 0 0.00 5 7 58.33 FOXO1 0 genome.wustl.edu 37 13 41134546 41134546 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 41134546 41134546 C T SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known missense c.1082 p.S361N 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 tier1 - - 74 0 0.00 80 5 5.88 FOXO1 0 genome.wustl.edu 37 13 41134546 41134546 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 41134546 41134546 C T SNP FOXO1 ENST00000379561 human ensembl 74_37 -1 known missense c.1082 p.S361N 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC ENSG00000150907 tier1 - - 80 0 0.00 80 5 5.88 FOXP1 0 genome.wustl.edu 37 3 71008341 71008342 + RNA INS - - T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 71008341 71008342 - T INS FOXP1 ENST00000460805 human ensembl 74_37 -1 known rna NULL NULL 0.616:0.439 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 41 0 0.00 38 11 22.45 FRA10AC1 0 genome.wustl.edu 37 10 95443844 95443844 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 95443844 95443844 C T SNP FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known missense c.637 p.E213K 1.000 pfam_Folate-sensitive_fs_Fra10Ac1 pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 tier1 - - 41 0 0.00 72 8 10.00 FRA10AC1 0 genome.wustl.edu 37 10 95443844 95443844 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 95443844 95443844 C T SNP FRA10AC1 ENST00000359204 human ensembl 74_37 -1 known missense c.637 p.E213K 1.000 pfam_Folate-sensitive_fs_Fra10Ac1 pfam_Folate-sensitive_fs_Fra10Ac1 - no_errors FRA10AC1 HGNC ENSG00000148690 tier1 - - 50 0 0.00 72 8 10.00 FREM1 0 genome.wustl.edu 37 9 14756394 14756394 + Silent SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 14756394 14756394 A C SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.5388 p.S1796 0.995 pfam_Calx_beta pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 105 0 0.00 91 24 20.87 FREM1 0 genome.wustl.edu 37 9 14756394 14756394 + Silent SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 14756394 14756394 A C SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.5388 p.S1796 0.995 pfam_Calx_beta pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 108 0 0.00 91 24 20.87 FREM2 0 genome.wustl.edu 37 13 39453061 39453061 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 39453061 39453061 G C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.8953 p.V2985L 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 100 0 0.00 79 15 15.96 FREM2 0 genome.wustl.edu 37 13 39453061 39453061 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 39453061 39453061 G C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.8953 p.V2985L 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 86 0 0.00 79 15 15.96 FRMPD4 0 genome.wustl.edu 37 X 12734819 12734819 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 12734819 12734819 C T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known silent c.2241 p.D747 0.831 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 tier1 - - 30 0 0.00 20 7 25.93 FRMPD4 0 genome.wustl.edu 37 X 12734819 12734819 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 12734819 12734819 C T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known silent c.2241 p.D747 0.831 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 tier1 - - 36 0 0.00 20 7 25.93 FRY 0 genome.wustl.edu 37 13 32731475 32731475 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 32731475 32731475 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.1717 p.E573K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 39 0 0.00 53 4 7.02 FRY 0 genome.wustl.edu 37 13 32731475 32731475 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 32731475 32731475 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.1717 p.E573K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 46 0 0.00 53 4 7.02 FUS 0 genome.wustl.edu 37 16 31193931 31193931 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 31193931 31193931 G C SNP FUS ENST00000254108 human ensembl 74_37 +1 known missense c.136 p.D46H 0.999 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 tier1 - - 70 0 0.00 56 5 8.20 FUS 0 genome.wustl.edu 37 16 31193931 31193931 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 31193931 31193931 G C SNP FUS ENST00000254108 human ensembl 74_37 +1 known missense c.136 p.D46H 0.999 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 tier1 - - 79 0 0.00 56 5 8.20 FZD1 0 genome.wustl.edu 37 7 90894459 90894460 + In_Frame_Ins INS - - CCG TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 90894459 90894460 - CCG INS FZD1 ENST00000287934 human ensembl 74_37 +1 known in_frame_ins c.264_265 p.92in_frame_insP 0.006:0.934 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 tier1 14 0 0.00 13 5 27.78 GAPDH 0 genome.wustl.edu 37 12 6645892 6645892 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 6645892 6645892 G A SNP GAPDH ENST00000229239 human ensembl 74_37 +1 known missense c.172 p.G58S 1.000 pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDH HGNC ENSG00000111640 23 0 0.00 26 5 16.13 GBE1 0 genome.wustl.edu 37 3 81720028 81720028 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 81720028 81720028 C T SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known silent c.390 p.Q130 0.001 pfam_Glyco_hydro_13_N,superfamily_Ig_E-set pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 57 0 0.00 93 13 12.26 GBE1 0 genome.wustl.edu 37 3 81720028 81720028 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 81720028 81720028 C T SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known silent c.390 p.Q130 0.001 pfam_Glyco_hydro_13_N,superfamily_Ig_E-set pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 77 0 0.00 93 13 12.26 GIGYF2 0 genome.wustl.edu 37 2 233655756 233655756 + Nonsense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 233655756 233655756 G T SNP GIGYF2 ENST00000458528 human ensembl 74_37 +1 known nonsense c.142 p.G48* 1.000 NULL NULL - no_errors GIGYF2 HGNC ENSG00000204120 tier1 - - 49 0 0.00 66 4 5.71 GIGYF2 0 genome.wustl.edu 37 2 233655756 233655756 + Nonsense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 233655756 233655756 G T SNP GIGYF2 ENST00000458528 human ensembl 74_37 +1 known nonsense c.142 p.G48* 1.000 NULL NULL - no_errors GIGYF2 HGNC ENSG00000204120 tier1 - - 54 0 0.00 66 4 5.71 GJB1 0 genome.wustl.edu 37 X 70443602 70443602 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 70443602 70443602 G T SNP GJB1 ENST00000361726 human ensembl 74_37 +1 known silent c.45 p.R15 1.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin32 - no_errors GJB1 HGNC ENSG00000169562 77 0 0.00 48 3 5.88 GLI2 0 genome.wustl.edu 37 2 121742273 121742273 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 121742273 121742273 T C SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.1910 p.V637A 0.945 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 tier1 - - 65 0 0.00 56 4 6.67 GLI2 0 genome.wustl.edu 37 2 121742273 121742273 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 121742273 121742273 T C SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.1910 p.V637A 0.945 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 tier1 - - 80 0 0.00 56 4 6.67 GLIS1 0 genome.wustl.edu 37 1 53980299 53980299 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 53980299 53980299 C T SNP GLIS1 ENST00000312233 human ensembl 74_37 -1 known missense c.1357 p.G453R 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS1 HGNC ENSG00000174332 tier1 - - 81 0 0.00 35 31 46.97 GLOD5 0 genome.wustl.edu 37 X 48629452 48629452 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 48629452 48629452 G A SNP GLOD5 ENST00000303227 human ensembl 74_37 +1 known missense c.311 p.C104Y 1.000 pfam_Glyas_Fos-R_dOase_dom pfam_Glyas_Fos-R_dOase_dom - no_errors GLOD5 HGNC ENSG00000171433 tier1 - - 41 0 0.00 48 4 7.69 GLOD5 0 genome.wustl.edu 37 X 48629452 48629452 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 48629452 48629452 G A SNP GLOD5 ENST00000303227 human ensembl 74_37 +1 known missense c.311 p.C104Y 1.000 pfam_Glyas_Fos-R_dOase_dom pfam_Glyas_Fos-R_dOase_dom - no_errors GLOD5 HGNC ENSG00000171433 tier1 - - 48 0 0.00 48 4 7.69 GNA12 0 genome.wustl.edu 37 7 2801997 2801998 + RNA INS - - G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 2801997 2801998 - G INS GNA12 ENST00000496740 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.001 - - - no_errors GNA12 HGNC ENSG00000146535 tier1 13 0 0.00 5 7 58.33 GNL2 0 genome.wustl.edu 37 1 38032583 38032583 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 38032583 38032583 C T SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.2069 p.R690Q 0.013 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 tier1 - - 100 0 0.00 74 8 9.76 GNL2 0 genome.wustl.edu 37 1 38032583 38032583 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 38032583 38032583 C T SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.2069 p.R690Q 0.013 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 tier1 - - 98 0 0.00 74 8 9.76 GOLGA6L6 0 genome.wustl.edu 37 15 20740173 20740173 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 20740173 20740173 A G SNP GOLGA6L6 ENST00000427390 human ensembl 74_37 -1 known missense c.1577 p.I526T 0.464 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 tier1 - - 302 0 0.00 247 27 9.82 GOLGA6L6 0 genome.wustl.edu 37 15 20740173 20740173 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 20740173 20740173 A G SNP GOLGA6L6 ENST00000427390 human ensembl 74_37 -1 known missense c.1577 p.I526T 0.464 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 tier1 - - 334 0 0.00 247 27 9.82 GPR158 0 genome.wustl.edu 37 10 25889143 25889143 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 25889143 25889143 T G SNP GPR158 ENST00000490549 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 36 0 0.00 59 8 11.76 GPR158 0 genome.wustl.edu 37 10 25889143 25889143 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 25889143 25889143 T G SNP GPR158 ENST00000490549 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 37 0 0.00 59 8 11.76 GPR161 0 genome.wustl.edu 37 1 168065938 168065938 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 168065938 168065938 G A SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.967 p.P323S 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 tier1 - - 34 0 0.00 50 4 7.41 GPR161 0 genome.wustl.edu 37 1 168065938 168065938 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 168065938 168065938 G A SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.967 p.P323S 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 tier1 - - 75 0 0.00 50 4 7.41 GPR32 0 genome.wustl.edu 37 19 51274769 51274769 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 51274769 51274769 G T SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.912 p.L304F 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 - - 114 0 0.00 85 5 5.56 GPR32 0 genome.wustl.edu 37 19 51274769 51274769 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 51274769 51274769 G T SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.912 p.L304F 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 - - 129 0 0.00 85 5 5.56 GREM2 0 genome.wustl.edu 37 1 240656362 240656362 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 240656362 240656362 G A SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known silent c.414 p.P138 0.829 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 tier1 - - 60 0 0.00 54 8 12.90 GREM2 0 genome.wustl.edu 37 1 240656362 240656362 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 240656362 240656362 G A SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known silent c.414 p.P138 0.829 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 tier1 - - 83 0 0.00 54 8 12.90 GRIK1 0 genome.wustl.edu 37 21 31062161 31062161 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 31062161 31062161 T A SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.431 p.D144V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 tier1 - - 60 0 0.00 46 9 16.36 GRIK4 0 genome.wustl.edu 37 11 120531108 120531108 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 120531108 120531108 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.81 p.I27 0.494 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 58 0 0.00 36 4 10.00 GRK4 0 genome.wustl.edu 37 4 3040279 3040280 + RNA INS - - A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 3040279 3040280 - A INS GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors GRK4 HGNC ENSG00000125388 tier1 8 0 0.00 7 3 30.00 GRM8 0 genome.wustl.edu 37 7 126086144 126086144 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 126086144 126086144 C T SNP GRM8 ENST00000358373 human ensembl 74_37 -1 known missense c.2713 p.G905R 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 40 0 0.00 45 4 8.00 GTF2H5 0 genome.wustl.edu 37 6 158613099 158613099 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 158613099 158613099 C T SNP GTF2H5 ENST00000607778 human ensembl 74_37 +1 known silent c.126 p.H42 0.649 pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5 pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5 - no_errors GTF2H5 HGNC ENSG00000272047 tier1 - - 99 0 0.00 75 5 6.25 GUCY2D 0 genome.wustl.edu 37 17 7909879 7909879 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 7909879 7909879 G A SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.1225 p.A409T 0.908 superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 tier1 rs144565168 - 65 0 0.00 85 5 5.56 GUCY2D 0 genome.wustl.edu 37 17 7917315 7917315 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 7917315 7917315 T G SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.2381 p.L794R 0.001 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 tier1 - - 54 0 0.00 40 5 11.11 HAS3 0 genome.wustl.edu 37 16 69148882 69148882 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 69148882 69148882 G A SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known missense c.1375 p.A459T 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 tier1 - - 54 0 0.00 48 7 12.73 HAS3 0 genome.wustl.edu 37 16 69148882 69148882 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 69148882 69148882 G A SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known missense c.1375 p.A459T 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 tier1 - - 73 0 0.00 48 7 12.73 HCN3 0 genome.wustl.edu 37 1 155255005 155255005 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 155255005 155255005 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1139 p.T380M 0.992 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 tier1 - - 128 0 0.00 74 6 7.50 HCN3 0 genome.wustl.edu 37 1 155255005 155255005 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 155255005 155255005 C T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1139 p.T380M 0.992 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 tier1 - - 71 0 0.00 74 6 7.50 HEATR5B 0 genome.wustl.edu 37 2 37255142 37255142 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 37255142 37255142 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.3777 p.I1259 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 97 0 0.00 83 8 8.79 HID1 0 genome.wustl.edu 37 17 72957985 72957985 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 72957985 72957985 A C SNP HID1 ENST00000425042 human ensembl 74_37 -1 known missense c.711 p.F237L 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 tier1 - - 172 0 0.00 80 8 9.09 HID1 0 genome.wustl.edu 37 17 72957985 72957985 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 72957985 72957985 A C SNP HID1 ENST00000425042 human ensembl 74_37 -1 known missense c.711 p.F237L 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 tier1 - - 78 0 0.00 80 8 9.09 HIST1H2BB 0 genome.wustl.edu 37 6 26043546 26043546 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 26043546 26043546 C T SNP HIST1H2BB ENST00000357905 human ensembl 74_37 -1 known missense c.340 p.E114K 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 tier1 - - 97 0 0.00 109 11 9.17 HIST1H4K 0 genome.wustl.edu 37 6 27799259 27799259 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 27799259 27799259 G A SNP HIST1H4K ENST00000357549 human ensembl 74_37 -1 known missense c.47 p.A16V 1.000 superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC ENSG00000197914 85 0 0.00 90 7 7.22 HKDC1 0 genome.wustl.edu 37 10 71018676 71018676 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 71018676 71018676 C T SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.2177 p.T726M 0.415 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 tier1 - - 35 0 0.00 32 12 27.27 HLA-A 0 genome.wustl.edu 37 6 29912284 29912284 + Silent SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 29912284 29912284 T G SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known silent c.903 p.S301 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 - - 163 0 0.00 148 12 7.50 HLA-A 0 genome.wustl.edu 37 6 29912284 29912284 + Silent SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 29912284 29912284 T G SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known silent c.903 p.S301 0.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 tier1 - - 233 0 0.00 148 12 7.50 HLA-B 0 genome.wustl.edu 37 6 31323208 31323208 + Nonsense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 31323208 31323208 C A SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known nonsense c.781 p.G261* 0.252 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 - - 134 0 0.00 114 12 9.52 HMCN1 0 genome.wustl.edu 37 1 186097328 186097328 + Nonsense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 186097328 186097328 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.12809 p.S4270* 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 59 0 0.00 70 15 17.65 HMCN1 0 genome.wustl.edu 37 1 186088917 186088917 + Silent SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 186088917 186088917 C G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.11997 p.V3999 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 53 0 0.00 76 6 7.32 HNRNPF 0 genome.wustl.edu 37 10 43882717 43882717 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 43882717 43882717 G A SNP HNRNPF ENST00000337970 human ensembl 74_37 -1 known missense c.616 p.R206W 0.997 NULL pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPF HGNC ENSG00000169813 45 0 0.00 35 2 5.41 HNRNPH3 0 genome.wustl.edu 37 10 70097637 70097637 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 70097637 70097637 G A SNP HNRNPH3 ENST00000265866 human ensembl 74_37 +1 known silent c.135 p.G45 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH3 HGNC ENSG00000096746 tier1 - - 81 0 0.00 80 10 11.11 HNRNPH3 0 genome.wustl.edu 37 10 70097637 70097637 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 70097637 70097637 G A SNP HNRNPH3 ENST00000265866 human ensembl 74_37 +1 known silent c.135 p.G45 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH3 HGNC ENSG00000096746 tier1 - - 96 0 0.00 80 10 11.11 HOXB9 0 genome.wustl.edu 37 17 46700458 46700458 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 46700458 46700458 C T SNP HOXB9 ENST00000311177 human ensembl 74_37 -1 known missense c.557 p.R186Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 84 0 0.00 50 3 5.66 HYOU1 0 genome.wustl.edu 37 11 118917347 118917347 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 118917347 118917347 C A SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.2763 p.K921N 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 80 0 0.00 52 3 5.45 IBTK 0 genome.wustl.edu 37 6 82924426 82924426 + Silent SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 82924426 82924426 G C SNP IBTK ENST00000306270 human ensembl 74_37 -1 known silent c.1722 p.L574 0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 23 0 0.00 43 4 8.51 IFNE 0 genome.wustl.edu 37 9 21481217 21481217 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 21481217 21481217 G T SNP IFNE ENST00000448696 human ensembl 74_37 -1 known missense c.477 p.D159E 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNE HGNC ENSG00000184995 tier1 - - 46 0 0.00 51 4 7.27 IFNE 0 genome.wustl.edu 37 9 21481217 21481217 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 21481217 21481217 G T SNP IFNE ENST00000448696 human ensembl 74_37 -1 known missense c.477 p.D159E 0.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNE HGNC ENSG00000184995 tier1 - - 72 0 0.00 51 4 7.27 IGF2R 0 genome.wustl.edu 37 6 160471608 160471608 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 160471608 160471608 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.2618 p.S873L 0.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 rs199514599 - 45 0 0.00 40 4 9.09 IGF2R 0 genome.wustl.edu 37 6 160471608 160471608 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 160471608 160471608 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.2618 p.S873L 0.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 tier1 rs199514599 - 64 0 0.00 40 4 9.09 IGFBP3 0 genome.wustl.edu 37 7 45957003 45957003 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 45957003 45957003 C T SNP IGFBP3 ENST00000381083 human ensembl 74_37 -1 known missense c.457 p.G153S 0.000 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1 - no_errors IGFBP3 HGNC ENSG00000146674 tier1 - - 59 0 0.00 29 7 18.92 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862666 10862666 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 10862666 10862666 G A SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known silent c.45 p.A15 0.620 NULL pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier1 - - 251 0 0.00 160 54 25.23 IKBKAP 0 genome.wustl.edu 37 9 111681124 111681124 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 111681124 111681124 G A SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.707 p.P236L 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 55 0 0.00 59 6 9.23 IKBKAP 0 genome.wustl.edu 37 9 111681124 111681124 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 111681124 111681124 G A SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.707 p.P236L 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 66 0 0.00 59 6 9.23 IL13RA2 0 genome.wustl.edu 37 X 114245244 114245244 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 114245244 114245244 G C SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.669 p.I223M 0.893 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 tier1 - - 34 0 0.00 61 9 12.86 IL34 0 genome.wustl.edu 37 16 70690565 70690565 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 70690565 70690565 G A SNP IL34 ENST00000288098 human ensembl 74_37 +1 known missense c.223 p.A75T 0.821 prints_IL-34 prints_IL-34 - no_errors IL34 HGNC ENSG00000157368 tier1 - - 52 0 0.00 16 12 42.86 INPP4A 0 genome.wustl.edu 37 2 99172180 99172180 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 99172180 99172180 G T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known missense c.1746 p.W582C 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 tier1 - - 48 0 0.00 41 14 25.45 INPP4A 0 genome.wustl.edu 37 2 99172180 99172180 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 99172180 99172180 G T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known missense c.1746 p.W582C 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 tier1 - - 56 0 0.00 41 14 25.45 INTS10 0 genome.wustl.edu 37 8 19687983 19687983 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 19687983 19687983 C T SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known missense c.1207 p.L403F 0.940 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 tier1 - - 74 0 0.00 78 9 10.34 INTS10 0 genome.wustl.edu 37 8 19687983 19687983 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 19687983 19687983 C T SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known missense c.1207 p.L403F 0.940 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 tier1 - - 77 0 0.00 78 9 10.34 INTS8 0 genome.wustl.edu 37 8 95850822 95850822 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 95850822 95850822 T G SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.993 p.I331M 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 tier1 - - 41 0 0.00 66 6 8.33 INTS8 0 genome.wustl.edu 37 8 95850822 95850822 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 95850822 95850822 T G SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.993 p.I331M 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 tier1 - - 44 0 0.00 66 6 8.33 IQGAP1 0 genome.wustl.edu 37 15 91034730 91034730 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 91034730 91034730 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.4414 p.V1472M 0.996 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 tier1 - - 52 0 0.00 41 6 12.77 IQGAP1 0 genome.wustl.edu 37 15 91034730 91034730 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 91034730 91034730 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.4414 p.V1472M 0.996 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 tier1 - - 65 0 0.00 41 6 12.77 ITPR1 0 genome.wustl.edu 37 3 4712438 4712438 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 4712438 4712438 G C SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.1987 p.E663Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 106 0 0.00 90 17 15.89 ITPR1 0 genome.wustl.edu 37 3 4712438 4712438 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 4712438 4712438 G C SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.1987 p.E663Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 111 0 0.00 90 17 15.89 IVL 0 genome.wustl.edu 37 1 152883117 152883117 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 152883117 152883117 C A SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.844 p.Q282K 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 201 0 0.00 122 58 32.04 JPH4 0 genome.wustl.edu 37 14 24041055 24041055 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 24041055 24041055 G T SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known missense c.1226 p.A409D 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 80 0 0.00 69 5 6.76 KANK4 0 genome.wustl.edu 37 1 62718879 62718879 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 62718879 62718879 C T SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.2542 p.V848I 0.930 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 tier1 - - 52 0 0.00 29 6 17.14 KATNB1 0 genome.wustl.edu 37 16 57785554 57785554 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 57785554 57785554 G T SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.434 p.G145V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_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 KATNB1 HGNC ENSG00000140854 59 0 0.00 53 4 7.02 KAZN 0 genome.wustl.edu 37 1 15370554 15370554 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 15370554 15370554 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.625 p.R209W 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 tier1 - - 53 0 0.00 69 4 5.48 KAZN 0 genome.wustl.edu 37 1 15370554 15370554 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 15370554 15370554 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.625 p.R209W 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 tier1 - - 62 0 0.00 69 4 5.48 KCNA6 0 genome.wustl.edu 37 12 4919722 4919722 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 4919722 4919722 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.515 p.P172L 0.994 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 tier1 - - 63 0 0.00 50 9 15.25 KCNA6 0 genome.wustl.edu 37 12 4920698 4920698 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 4920698 4920698 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known silent c.1491 p.G497 0.997 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 tier1 - - 41 0 0.00 53 4 7.02 KCNA6 0 genome.wustl.edu 37 12 4920698 4920698 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 4920698 4920698 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known silent c.1491 p.G497 0.997 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 tier1 - - 54 0 0.00 53 4 7.02 KCNH1 0 genome.wustl.edu 37 1 210948725 210948725 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 210948725 210948725 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.2077 p.R693W 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 78 0 0.00 58 5 7.94 KCNH1 0 genome.wustl.edu 37 1 210948725 210948725 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 210948725 210948725 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.2077 p.R693W 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 84 0 0.00 58 5 7.94 KCNJ12 0 genome.wustl.edu 37 17 21319079 21319079 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 21319079 21319079 C A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.425 p.T142N 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 rs76518282 - 39 0 0.00 49 10 16.95 KCNU1 0 genome.wustl.edu 37 8 36780046 36780046 + Nonsense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 36780046 36780046 G T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known nonsense c.2635 p.G879* 0.687 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 88 0 0.00 79 10 11.24 KCNV1 0 genome.wustl.edu 37 8 110986334 110986334 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 110986334 110986334 T C SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.284 p.N95S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 142 0 0.00 104 22 17.32 KCNV1 0 genome.wustl.edu 37 8 110986334 110986334 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 110986334 110986334 T C SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known missense c.284 p.N95S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 tier1 - - 166 0 0.00 104 22 17.32 KCTD17 0 genome.wustl.edu 37 22 37457163 37457163 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 37457163 37457163 C T SNP KCTD17 ENST00000403888 human ensembl 74_37 +1 known silent c.753 p.P251 0.999 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD17 HGNC ENSG00000100379 tier1 - - 37 0 0.00 28 5 15.15 KDM5B 0 genome.wustl.edu 37 1 202710527 202710527 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 202710527 202710527 C G SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.3021 p.W1007C 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 tier1 - - 79 0 0.00 68 5 6.85 KDM5B 0 genome.wustl.edu 37 1 202710527 202710527 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 202710527 202710527 C G SNP KDM5B ENST00000367264 human ensembl 74_37 -1 known missense c.3021 p.W1007C 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 tier1 - - 91 0 0.00 68 5 6.85 KHDRBS2 0 genome.wustl.edu 37 6 62995779 62995779 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 62995779 62995779 C T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known silent c.75 p.S25 0.999 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 37 0 0.00 50 7 12.07 KHDRBS2 0 genome.wustl.edu 37 6 62995779 62995779 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 62995779 62995779 C T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known silent c.75 p.S25 0.999 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 55 0 0.00 50 7 12.07 KIF1B 0 genome.wustl.edu 37 1 10364491 10364491 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 10364491 10364491 A T SNP KIF1B ENST00000377083 human ensembl 74_37 +1 known missense c.3248 p.D1083V 0.978 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 47 0 0.00 26 17 39.53 KIF26B 0 genome.wustl.edu 37 1 245850994 245850994 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 245850994 245850994 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.4709 p.T1570I 0.291 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 54 0 0.00 47 6 11.11 KIF26B 0 genome.wustl.edu 37 1 245850994 245850994 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 245850994 245850994 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.4709 p.T1570I 0.291 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 tier1 - - 57 0 0.00 47 6 11.11 KIFC3 0 genome.wustl.edu 37 16 57794989 57794989 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 57794989 57794989 C T SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.1967 p.R656Q 0.604 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 38 0 0.00 38 2 5.00 KLHDC1 0 genome.wustl.edu 37 14 50190640 50190640 + Silent SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 50190640 50190640 A G SNP KLHDC1 ENST00000359332 human ensembl 74_37 +1 known silent c.453 p.Q151 1.000 superfamily_Gal_Oxase/kelch_b-propeller pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC1 HGNC ENSG00000197776 tier1 - - 94 0 0.00 113 6 5.04 KLHDC1 0 genome.wustl.edu 37 14 50190640 50190640 + Silent SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 50190640 50190640 A G SNP KLHDC1 ENST00000359332 human ensembl 74_37 +1 known silent c.453 p.Q151 1.000 superfamily_Gal_Oxase/kelch_b-propeller pfam_Kelch_2,pfam_Kelch_1,superfamily_Gal_Oxase/kelch_b-propeller - no_errors KLHDC1 HGNC ENSG00000197776 tier1 - - 95 0 0.00 113 6 5.04 KRT36 0 genome.wustl.edu 37 17 39643973 39643973 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 39643973 39643973 C T SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known missense c.716 p.R239H 0.983 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 tier1 - - 35 0 0.00 39 11 22.00 KRTAP27-1 0 genome.wustl.edu 37 21 31709636 31709636 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 31709636 31709636 T G SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known missense c.351 p.Q117H 0.007 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 tier1 - - 75 0 0.00 46 7 13.21 KRTAP27-1 0 genome.wustl.edu 37 21 31709675 31709675 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 31709675 31709675 A T SNP KRTAP27-1 ENST00000382835 human ensembl 74_37 -1 known missense c.312 p.S104R 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP27-1 HGNC ENSG00000206107 tier1 - - 63 0 0.00 36 9 20.00 LCE2C 0 genome.wustl.edu 37 1 152648726 152648726 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 152648726 152648726 C T SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known missense c.235 p.R79C 0.010 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 tier1 - - 131 0 0.00 107 10 8.55 LCE2C 0 genome.wustl.edu 37 1 152648726 152648726 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 152648726 152648726 C T SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known missense c.235 p.R79C 0.010 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 tier1 - - 144 0 0.00 107 10 8.55 LDB2 0 genome.wustl.edu 37 4 16504719 16504719 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 16504719 16504719 G A SNP LDB2 ENST00000503178 human ensembl 74_37 -1 known silent c.555 p.C185 0.882 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 tier1 - - 93 0 0.00 67 7 9.46 LEPR 0 genome.wustl.edu 37 1 66102029 66102029 + Silent SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 66102029 66102029 T G SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.2829 p.L943 0.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 tier1 - - 53 0 0.00 38 10 20.83 LEPR 0 genome.wustl.edu 37 1 66102029 66102029 + Silent SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 66102029 66102029 T G SNP LEPR ENST00000349533 human ensembl 74_37 +1 known silent c.2829 p.L943 0.000 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 tier1 - - 71 0 0.00 38 10 20.83 LGALS4 0 genome.wustl.edu 37 19 39292410 39292410 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 39292410 39292410 C G SNP LGALS4 ENST00000307751 human ensembl 74_37 -1 known missense c.966 p.Q322H 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS4 HGNC ENSG00000171747 tier1 - - 109 0 0.00 78 6 7.14 LGALS4 0 genome.wustl.edu 37 19 39292410 39292410 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 39292410 39292410 C G SNP LGALS4 ENST00000307751 human ensembl 74_37 -1 known missense c.966 p.Q322H 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS4 HGNC ENSG00000171747 tier1 - - 80 0 0.00 78 6 7.14 LGI1 0 genome.wustl.edu 37 10 95518077 95518077 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 95518077 95518077 G C SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known missense c.176 p.R59T 1.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 tier1 - - 73 0 0.00 76 5 6.17 LGI1 0 genome.wustl.edu 37 10 95518077 95518077 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 95518077 95518077 G C SNP LGI1 ENST00000371418 human ensembl 74_37 +1 known missense c.176 p.R59T 1.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI1 HGNC ENSG00000108231 tier1 - - 77 0 0.00 76 5 6.17 LHFPL3 0 genome.wustl.edu 37 7 103969251 103969251 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 103969251 103969251 C T SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known silent c.24 p.A8 1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 29 0 0.00 17 2 10.53 LIMD1 0 genome.wustl.edu 37 3 45637430 45637430 + Silent SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 45637430 45637430 G C SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1059 p.S353 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 tier1 - - 44 0 0.00 56 5 8.20 LIMD1 0 genome.wustl.edu 37 3 45637430 45637430 + Silent SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 45637430 45637430 G C SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1059 p.S353 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 tier1 - - 63 0 0.00 56 5 8.20 LINC00917 0 genome.wustl.edu 37 16 86371285 86371285 + RNA SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 86371285 86371285 C A SNP LINC00917 ENST00000594203 human ensembl 74_37 -1 known rna NULL NULL 0.041 - - - no_errors LINC00917 HGNC ENSG00000168367 36 0 0.00 35 3 7.69 LMO7 0 genome.wustl.edu 37 13 76430682 76430682 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 76430682 76430682 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.4858 p.E1620K 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 18 0 0.00 30 7 18.92 LOC389033 0 genome.wustl.edu 37 2 130681240 130681240 + RNA SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 130681240 130681240 G A SNP LOC389033 ENST00000433290 human ensembl 74_37 -1 known rna NULL NULL 0.691 - - - no_errors AC079776.2 Clone_based_vega_gene ENSG00000214100 tier1 - - 128 0 0.00 76 11 12.64 LONRF1 0 genome.wustl.edu 37 8 12595527 12595527 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 12595527 12595527 G A SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known missense c.1090 p.L364F 0.001 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 tier1 - - 103 0 0.00 111 25 18.38 LONRF1 0 genome.wustl.edu 37 8 12595527 12595527 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 12595527 12595527 G A SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known missense c.1090 p.L364F 0.001 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 tier1 - - 87 0 0.00 111 25 18.38 LPIN3 0 genome.wustl.edu 37 20 39986652 39986652 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 39986652 39986652 A C SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.2170 p.S724R 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 - - 79 0 0.00 97 12 11.01 LPIN3 0 genome.wustl.edu 37 20 39986652 39986652 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 39986652 39986652 A C SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.2170 p.S724R 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 - - 90 0 0.00 97 12 11.01 LRP1 0 genome.wustl.edu 37 12 57543467 57543467 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 57543467 57543467 G A SNP LRP1 ENST00000553277 human ensembl 74_37 +1 putative silent c.846 p.R282 0.002 NULL pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 27 0 0.00 37 9 19.57 LRP1 0 genome.wustl.edu 37 12 57543467 57543467 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 57543467 57543467 G A SNP LRP1 ENST00000553277 human ensembl 74_37 +1 putative silent c.846 p.R282 0.002 NULL pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 79 0 0.00 37 9 19.57 LRP1B 0 genome.wustl.edu 37 2 141272283 141272283 + Silent SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 141272283 141272283 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.8208 p.H2736 0.996 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 68 0 0.00 88 5 5.38 LRP1B 0 genome.wustl.edu 37 2 141272283 141272283 + Silent SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 141272283 141272283 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.8208 p.H2736 0.996 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 94 0 0.00 88 5 5.38 LRP2 0 genome.wustl.edu 37 2 170007486 170007486 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 170007486 170007486 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.12512 p.L4171P 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 tier1 - - 92 0 0.00 82 5 5.75 LRP2 0 genome.wustl.edu 37 2 170007486 170007486 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 170007486 170007486 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.12512 p.L4171P 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 tier1 - - 93 0 0.00 82 5 5.75 LRP2 0 genome.wustl.edu 37 2 170070266 170070266 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 170070266 170070266 C G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.5941 p.E1981Q 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 tier1 - - 62 0 0.00 73 5 6.41 LRP2 0 genome.wustl.edu 37 2 170070266 170070266 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 170070266 170070266 C G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.5941 p.E1981Q 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 tier1 - - 84 0 0.00 73 5 6.41 LRRC18 0 genome.wustl.edu 37 10 50122166 50122166 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 50122166 50122166 T C SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.35 p.K12R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 tier1 - - 36 0 0.00 36 8 18.18 LRRC18 0 genome.wustl.edu 37 10 50122166 50122166 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 50122166 50122166 T C SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.35 p.K12R 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 tier1 - - 41 0 0.00 36 8 18.18 LRRK1 0 genome.wustl.edu 37 15 101606295 101606295 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 101606295 101606295 G A SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.5653 p.G1885S 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 31 0 0.00 20 4 16.67 LRRTM4 0 genome.wustl.edu 37 2 77746393 77746393 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 77746393 77746393 A C SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.605 p.F202C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 45 0 0.00 41 5 10.87 LZTS2 0 genome.wustl.edu 37 10 102763855 102763855 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 102763855 102763855 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 0.988 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 tier1 - - 71 0 0.00 69 9 11.54 LZTS2 0 genome.wustl.edu 37 10 102763855 102763855 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 102763855 102763855 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 0.988 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 tier1 - - 83 0 0.00 69 9 11.54 MAGED2 0 genome.wustl.edu 37 X 54842001 54842001 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 54842001 54842001 C A SNP MAGED2 ENST00000218439 human ensembl 74_37 +1 known missense c.1707 p.F569L 0.049 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 tier1 - - 37 0 0.00 33 9 21.43 MAGED2 0 genome.wustl.edu 37 X 54842001 54842001 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 54842001 54842001 C A SNP MAGED2 ENST00000218439 human ensembl 74_37 +1 known missense c.1707 p.F569L 0.049 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 tier1 - - 61 0 0.00 33 9 21.43 MAP2K4 0 genome.wustl.edu 37 17 12028638 12028638 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 12028638 12028638 C T SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known nonsense c.874 p.R292* 0.791 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 MAP2K4 HGNC ENSG00000065559 tier1 - - 53 0 0.00 63 5 7.35 MAST3 0 genome.wustl.edu 37 19 18255930 18255930 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 18255930 18255930 G A SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2843 p.R948Q 1.000 superfamily_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 tier1 - - 109 0 0.00 98 8 7.55 MAST3 0 genome.wustl.edu 37 19 18255930 18255930 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 18255930 18255930 G A SNP MAST3 ENST00000262811 human ensembl 74_37 +1 known missense c.2843 p.R948Q 1.000 superfamily_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST3 HGNC ENSG00000099308 tier1 - - 134 0 0.00 98 8 7.55 MBD1 0 genome.wustl.edu 37 18 47802019 47802019 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 47802019 47802019 C T SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.821 p.R274H 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 50 0 0.00 36 3 7.69 MCF2L 0 genome.wustl.edu 37 13 113699101 113699101 + Silent SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 113699101 113699101 A G SNP MCF2L ENST00000397021 human ensembl 74_37 +1 putative silent c.63 p.S21 0.000 NULL NULL - no_errors MCF2L HGNC ENSG00000126217 tier1 - - 38 0 0.00 60 4 6.25 MCF2L 0 genome.wustl.edu 37 13 113699101 113699101 + Silent SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 113699101 113699101 A G SNP MCF2L ENST00000397021 human ensembl 74_37 +1 putative silent c.63 p.S21 0.000 NULL NULL - no_errors MCF2L HGNC ENSG00000126217 tier1 - - 75 0 0.00 60 4 6.25 MDGA1 0 genome.wustl.edu 37 6 37618132 37618132 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 37618132 37618132 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known silent c.1362 p.R454 0.230 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 71 0 0.00 100 6 5.66 MDGA1 0 genome.wustl.edu 37 6 37618132 37618132 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 37618132 37618132 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known silent c.1362 p.R454 0.230 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 97 0 0.00 100 6 5.66 MEGF8 0 genome.wustl.edu 37 19 42874502 42874502 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 42874502 42874502 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.6996 p.D2332 1.000 smart_EG-like_dom,smart_EGF_laminin pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 50 0 0.00 34 5 12.82 MICALCL 0 genome.wustl.edu 37 11 12348776 12348776 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 12348776 12348776 G T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.1692 p.Q564H 1.000 pfam_DUF3585 pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 tier1 - - 113 0 0.00 56 4 6.67 MICALCL 0 genome.wustl.edu 37 11 12348776 12348776 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 12348776 12348776 G T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.1692 p.Q564H 1.000 pfam_DUF3585 pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 tier1 - - 77 0 0.00 56 4 6.67 MICALL2 0 genome.wustl.edu 37 7 1498894 1498894 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 1498894 1498894 G A SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known silent c.69 p.I23 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 tier1 - - 121 0 0.00 100 14 12.28 MIEF1 0 genome.wustl.edu 37 22 39909685 39909685 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 39909685 39909685 G A SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.749 p.R250H 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 tier1 - - 66 0 0.00 58 7 10.77 MIR448 0 genome.wustl.edu 37 X 114058121 114058121 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 114058121 114058121 T G SNP MIR448 ENST00000362131 human ensembl 74_37 +1 known rna NULL NULL 0.720 - - - no_errors MIR448 HGNC ENSG00000199001 tier1 - - 26 0 0.00 21 4 16.00 MMP2 0 genome.wustl.edu 37 16 55513515 55513515 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 55513515 55513515 G A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.124 p.A42T 0.984 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 tier1 - - 54 0 0.00 58 7 10.77 MMP2 0 genome.wustl.edu 37 16 55513515 55513515 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 55513515 55513515 G A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.124 p.A42T 0.984 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 tier1 - - 99 0 0.00 58 7 10.77 MOCS2 0 genome.wustl.edu 37 5 52404407 52404407 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 52404407 52404407 G T SNP MOCS2 ENST00000361377 human ensembl 74_37 -1 known missense c.85 p.P29T 1.000 pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1 pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1 - no_errors MOCS2 HGNC ENSG00000164172 tier1 - - 35 0 0.00 44 4 8.33 MOCS2 0 genome.wustl.edu 37 5 52404407 52404407 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 52404407 52404407 G T SNP MOCS2 ENST00000361377 human ensembl 74_37 -1 known missense c.85 p.P29T 1.000 pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1 pfam_ThiS/MoaD,superfamily_Mopterin_synth/thiamin_S_b,tigrfam_Mopterin_su_1 - no_errors MOCS2 HGNC ENSG00000164172 tier1 - - 78 0 0.00 44 4 8.33 MROH2A 0 genome.wustl.edu 37 2 234731078 234731078 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 234731078 234731078 G A SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel missense c.3742 p.D1248N 0.963 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 50 0 0.00 54 10 15.62 MROH2A 0 genome.wustl.edu 37 2 234731078 234731078 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 234731078 234731078 G A SNP MROH2A ENST00000389758 human ensembl 74_37 +1 novel missense c.3742 p.D1248N 0.963 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2A HGNC ENSG00000185038 tier1 - - 70 0 0.00 54 10 15.62 MT-ATP6 0 genome.wustl.edu 37 MT 9099 9099 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd MT 9099 9099 C T SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known silent c.573 p.I191 NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 25 0 0.00 0 31 100.00 MT-CO1 0 genome.wustl.edu 37 MT 7323 7323 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd MT 7323 7323 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1420 p.E474K NULL superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 141 0 0.00 36 47 56.63 MT-ND5 0 genome.wustl.edu 37 MT 12991 12991 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd MT 12991 12991 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.655 p.A219T NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 42 0 0.00 11 2 15.38 MT-ND5 0 genome.wustl.edu 37 MT 13113 13113 + Silent SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd MT 13113 13113 A G SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.777 p.L259 NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 33 0 0.00 8 2 20.00 MT-RNR2 0 genome.wustl.edu 37 MT 2615 2615 + RNA DEL A A - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd MT 2615 2615 A - DEL MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 6520 0 0.00 1976 409 17.15 MTMR9 0 genome.wustl.edu 37 8 11162418 11162418 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 11162418 11162418 C T SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known silent c.486 p.V162 0.995 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 tier1 - - 88 0 0.00 105 32 23.36 MUC12 0 genome.wustl.edu 37 7 100638545 100638545 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 100638545 100638545 G A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known silent c.4701 p.T1567 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 16 0 0.00 43 18 29.51 MUC17 0 genome.wustl.edu 37 7 100675650 100675650 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 100675650 100675650 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.953 p.T318M 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 133 0 0.00 96 14 12.73 MUC2 0 genome.wustl.edu 37 11 1080881 1080883 + In_Frame_Del DEL ACA ACA - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 1080881 1080883 ACA - DEL MUC2 ENST00000441003 human ensembl 74_37 +1 known in_frame_del c.1265_1267 p.N423in_frame_del 0.001:0.004:0.011 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 24 0 0.00 9 18 66.67 MYH10 0 genome.wustl.edu 37 17 8422001 8422001 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 8422001 8422001 T G SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.2422 p.T808P 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 50 0 0.00 40 4 9.09 MYH10 0 genome.wustl.edu 37 17 8422001 8422001 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 8422001 8422001 T G SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.2422 p.T808P 1.000 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 75 0 0.00 40 4 9.09 MYH3 0 genome.wustl.edu 37 17 10533739 10533739 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 10533739 10533739 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5323 p.D1775N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 181 0 0.00 54 23 29.87 MYL4 0 genome.wustl.edu 37 17 45291180 45291180 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 45291180 45291180 G A SNP MYL4 ENST00000354968 human ensembl 74_37 +1 known missense c.151 p.D51N 0.998 NULL pfscan_EF_hand_dom - no_errors MYL4 HGNC ENSG00000198336 tier1 - - 54 0 0.00 69 9 11.54 MYL4 0 genome.wustl.edu 37 17 45291180 45291180 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 45291180 45291180 G A SNP MYL4 ENST00000354968 human ensembl 74_37 +1 known missense c.151 p.D51N 0.998 NULL pfscan_EF_hand_dom - no_errors MYL4 HGNC ENSG00000198336 tier1 - - 81 0 0.00 69 9 11.54 MYO16 0 genome.wustl.edu 37 13 109779715 109779715 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 109779715 109779715 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3802 p.V1268I 0.001 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 100 0 0.00 76 12 13.64 MYO16 0 genome.wustl.edu 37 13 109779715 109779715 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 109779715 109779715 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3802 p.V1268I 0.001 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 103 0 0.00 76 12 13.64 MYO7B 0 genome.wustl.edu 37 2 128364959 128364959 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 128364959 128364959 G T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.2603 p.G868V 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 100 0 0.00 63 10 13.51 MYO7B 0 genome.wustl.edu 37 2 128364959 128364959 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 128364959 128364959 G T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.2603 p.G868V 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 90 0 0.00 63 10 13.51 MYOCD 0 genome.wustl.edu 37 17 12656531 12656531 + Silent SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 12656531 12656531 T C SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.1926 p.A642 0.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 37 0 0.00 29 4 12.12 MYOCD 0 genome.wustl.edu 37 17 12656531 12656531 + Silent SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 12656531 12656531 T C SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known silent c.1926 p.A642 0.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 43 0 0.00 29 4 12.12 NAP1L1 0 genome.wustl.edu 37 12 76448798 76448798 + Splice_Site SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 76448798 76448798 C T SNP NAP1L1 ENST00000261182 human ensembl 74_37 -1 known splice_site c.630+1 e7+1 1.000 - - - no_errors NAP1L1 HGNC ENSG00000187109 tier1 - - 12 0 0.00 20 9 31.03 NAP1L1 0 genome.wustl.edu 37 12 76448798 76448798 + Splice_Site SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 76448798 76448798 C T SNP NAP1L1 ENST00000261182 human ensembl 74_37 -1 known splice_site c.630+1 e7+1 1.000 - - - no_errors NAP1L1 HGNC ENSG00000187109 tier1 - - 25 0 0.00 20 9 31.03 NAP1L3 0 genome.wustl.edu 37 X 92926799 92926799 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 92926799 92926799 T C SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.1505 p.K502R 0.003 NULL pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 tier1 - - 23 0 0.00 31 8 20.51 NEO1 0 genome.wustl.edu 37 15 73590936 73590936 + Silent SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 73590936 73590936 A C SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known silent c.4149 p.P1383 0.096 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,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 NEO1 HGNC ENSG00000067141 tier1 - - 40 0 0.00 28 9 24.32 NFE2L3 0 genome.wustl.edu 37 7 26225093 26225093 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 26225093 26225093 C T SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known missense c.1775 p.A592V 1.000 pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 tier1 - - 126 0 0.00 98 7 6.67 NFYC 0 genome.wustl.edu 37 1 41236499 41236499 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 41236499 41236499 G A SNP NFYC ENST00000308733 human ensembl 74_37 +1 known silent c.1376 p.*459 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 tier1 - - 87 0 0.00 59 9 13.24 NFYC 0 genome.wustl.edu 37 1 41236499 41236499 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 41236499 41236499 G A SNP NFYC ENST00000308733 human ensembl 74_37 +1 known silent c.1376 p.*459 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors NFYC HGNC ENSG00000066136 tier1 - - 91 0 0.00 59 9 13.24 NKAIN2 0 genome.wustl.edu 37 6 125139618 125139618 + Nonstop_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 125139618 125139618 A C SNP NKAIN2 ENST00000545433 human ensembl 74_37 +1 known nonstop c.576 p.*192Y 1.000 NULL pfam_Na/K-Atpase_Interacting - no_errors NKAIN2 HGNC ENSG00000188580 tier1 - - 42 0 0.00 64 5 7.25 NKAPL 0 genome.wustl.edu 37 6 28227442 28227442 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 28227442 28227442 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.293 p.R98H 0.293 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 - - 37 0 0.00 35 4 10.26 NKAPL 0 genome.wustl.edu 37 6 28227442 28227442 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 28227442 28227442 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.293 p.R98H 0.293 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 - - 40 0 0.00 35 4 10.26 NLK 0 genome.wustl.edu 37 17 26495561 26495561 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 26495561 26495561 C T SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.925 p.P309S 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 NLK HGNC ENSG00000087095 tier1 - - 74 0 0.00 92 9 8.91 NLRC4 0 genome.wustl.edu 37 2 32476285 32476285 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 32476285 32476285 G A SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known silent c.648 p.L216 0.839 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 tier1 - - 69 0 0.00 66 10 13.16 NLRP7 0 genome.wustl.edu 37 19 55450857 55450857 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 55450857 55450857 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1414 p.D472N 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 55 0 0.00 53 7 11.67 NOD2 0 genome.wustl.edu 37 16 50745399 50745399 + Frame_Shift_Del DEL C C - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 50745399 50745399 C - DEL NOD2 ENST00000300589 human ensembl 74_37 +1 known frame_shift_del c.1577 p.P528fs 0.928 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 tier1 18 0 0.00 26 2 7.14 NODAL 0 genome.wustl.edu 37 10 72195386 72195386 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 72195386 72195386 G A SNP NODAL ENST00000287139 human ensembl 74_37 -1 known missense c.547 p.R183W 0.001 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors NODAL HGNC ENSG00000156574 53 0 0.00 26 3 10.34 NPR1 0 genome.wustl.edu 37 1 153661440 153661440 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 153661440 153661440 G T SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.2429 p.S810I 1.000 superfamily_Kinase-like_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 tier1 - - 74 0 0.00 46 4 8.00 NPY4R 0 genome.wustl.edu 37 10 47087562 47087562 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 47087562 47087562 T C SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.779 p.M260T 0.954 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 tier1 - - 49 0 0.00 47 4 7.84 NPY4R 0 genome.wustl.edu 37 10 47087562 47087562 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 47087562 47087562 T C SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.779 p.M260T 0.954 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 tier1 - - 66 0 0.00 47 4 7.84 NRXN1 0 genome.wustl.edu 37 2 50147566 50147566 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 50147566 50147566 T G SNP NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 41 0 0.00 51 17 24.29 NRXN1 0 genome.wustl.edu 37 2 50147566 50147566 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 50147566 50147566 T G SNP NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 57 0 0.00 51 17 24.29 NTM 0 genome.wustl.edu 37 11 132205624 132205624 + RNA DEL T T - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 132205624 132205624 T - DEL NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 21 0 0.00 43 6 12.24 NUMBL 0 genome.wustl.edu 37 19 41183321 41183321 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 41183321 41183321 C G SNP NUMBL ENST00000252891 human ensembl 74_37 -1 known missense c.546 p.E182D 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 - - 133 0 0.00 90 8 8.16 NUPL1 0 genome.wustl.edu 37 13 25914177 25914177 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 25914177 25914177 G T SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known missense c.1705 p.G569W 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 tier1 - - 54 0 0.00 55 4 6.78 NUPL1 0 genome.wustl.edu 37 13 25914177 25914177 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 25914177 25914177 G T SNP NUPL1 ENST00000381736 human ensembl 74_37 +1 known missense c.1705 p.G569W 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 tier1 - - 78 0 0.00 55 4 6.78 OBP2A 0 genome.wustl.edu 37 9 138439763 138439763 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 138439763 138439763 C T SNP OBP2A ENST00000342114 human ensembl 74_37 +1 known nonsense c.190 p.R64* 0.001 NULL superfamily_Calycin-like - no_errors OBP2A HGNC ENSG00000122136 tier1 - - 45 0 0.00 47 8 14.29 OBP2A 0 genome.wustl.edu 37 9 138439763 138439763 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 138439763 138439763 C T SNP OBP2A ENST00000342114 human ensembl 74_37 +1 known nonsense c.190 p.R64* 0.001 NULL superfamily_Calycin-like - no_errors OBP2A HGNC ENSG00000122136 tier1 - - 60 0 0.00 47 8 14.29 OGFR 0 genome.wustl.edu 37 20 61444884 61444884 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 61444884 61444884 G A SNP OGFR ENST00000290291 human ensembl 74_37 +1 known silent c.1917 p.S639 0.008 pfam_OGF_rcpt_rpt pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 tier1 - - 169 0 0.00 109 26 19.26 OPRL1 0 genome.wustl.edu 37 20 62730060 62730060 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 62730060 62730060 C T SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.1021 p.R341W 0.996 prints_X_opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 tier1 rs150300242 - 39 0 0.00 77 7 8.24 OPRL1 0 genome.wustl.edu 37 20 62730060 62730060 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 62730060 62730060 C T SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.1021 p.R341W 0.996 prints_X_opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 tier1 rs150300242 - 58 0 0.00 77 7 8.24 OPRM1 0 genome.wustl.edu 37 6 154360312 154360312 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 154360312 154360312 G C SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known missense c.17 p.R6T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 tier1 - - 43 0 0.00 37 8 17.78 OPRM1 0 genome.wustl.edu 37 6 154360312 154360312 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 154360312 154360312 G C SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known missense c.17 p.R6T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 tier1 - - 49 0 0.00 37 8 17.78 OR10G6 0 genome.wustl.edu 37 11 123865646 123865646 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 123865646 123865646 G A SNP OR10G6 ENST00000307002 human ensembl 74_37 -1 known missense c.223 p.R75W 0.171 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G6 HGNC ENSG00000198674 tier1 - - 49 0 0.00 55 7 11.29 OR10K2 0 genome.wustl.edu 37 1 158390342 158390342 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 158390342 158390342 G A SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known silent c.315 p.L105 0.001 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 OR10K2 HGNC ENSG00000180708 tier1 - - 53 0 0.00 48 4 7.69 OR10K2 0 genome.wustl.edu 37 1 158390342 158390342 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 158390342 158390342 G A SNP OR10K2 ENST00000314902 human ensembl 74_37 -1 known silent c.315 p.L105 0.001 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 OR10K2 HGNC ENSG00000180708 tier1 - - 60 0 0.00 48 4 7.69 OR10Z1 0 genome.wustl.edu 37 1 158576411 158576411 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 158576411 158576411 C A SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.183 p.L61 0.775 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 OR10Z1 HGNC ENSG00000198967 tier1 - - 87 0 0.00 97 11 10.19 OR10Z1 0 genome.wustl.edu 37 1 158576411 158576411 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 158576411 158576411 C A SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.183 p.L61 0.775 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 OR10Z1 HGNC ENSG00000198967 tier1 - - 90 0 0.00 97 11 10.19 OR1L4 0 genome.wustl.edu 37 9 125486311 125486311 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 125486311 125486311 C G SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.43 p.L15V 0.998 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 tier1 - - 105 0 0.00 118 13 9.92 OR1L4 0 genome.wustl.edu 37 9 125486311 125486311 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 125486311 125486311 C G SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.43 p.L15V 0.998 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 tier1 - - 121 0 0.00 118 13 9.92 OR4A16 0 genome.wustl.edu 37 11 55111564 55111565 + Frame_Shift_Ins INS - - A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 55111564 55111565 0 A INS OR4A16 ENST00000314721 human ensembl 74_37 +1 known frame_shift_ins c.888_889 p.N297fs 0.168:0.033 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 46 0 0.00 41 8 16.33 OR4Q3 0 genome.wustl.edu 37 14 20216087 20216087 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 20216087 20216087 G T SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known silent c.501 p.L167 0.719 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 tier1 - - 100 0 0.00 90 28 23.73 OR4Q3 0 genome.wustl.edu 37 14 20216087 20216087 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 20216087 20216087 G T SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known silent c.501 p.L167 0.719 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 tier1 - - 115 0 0.00 90 28 23.73 OR51L1 0 genome.wustl.edu 37 11 5021006 5021006 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 5021006 5021006 G A SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known missense c.794 p.R265H 0.613 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 OR51L1 HGNC ENSG00000176798 tier1 - - 112 0 0.00 88 9 9.28 OR51Q1 0 genome.wustl.edu 37 11 5443871 5443871 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 5443871 5443871 G A SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known silent c.441 p.G147 0.009 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 OR51Q1 HGNC ENSG00000167360 tier1 - - 39 0 0.00 30 7 18.92 OR51Q1 0 genome.wustl.edu 37 11 5443871 5443871 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 5443871 5443871 G A SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known silent c.441 p.G147 0.009 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 OR51Q1 HGNC ENSG00000167360 tier1 - - 41 0 0.00 30 7 18.92 OR51Q1 0 genome.wustl.edu 37 11 5444098 5444098 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 5444098 5444098 T G SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.668 p.I223S 0.752 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 tier1 - - 52 0 0.00 49 10 16.95 OR51Q1 0 genome.wustl.edu 37 11 5444098 5444098 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 5444098 5444098 T G SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.668 p.I223S 0.752 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 tier1 - - 82 0 0.00 49 10 16.95 OR51S1 0 genome.wustl.edu 37 11 4869954 4869954 + Frame_Shift_Del DEL C C - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 4869954 4869954 C - DEL OR51S1 ENST00000322101 human ensembl 74_37 -1 known frame_shift_del c.485 p.G162fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 tier1 49 0 0.00 38 2 5.00 OR5M9 0 genome.wustl.edu 37 11 56230592 56230592 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 56230592 56230592 A C SNP OR5M9 ENST00000279791 human ensembl 74_37 -1 known missense c.286 p.L96V 0.041 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 OR5M9 HGNC ENSG00000150269 20 0 0.00 15 3 16.67 OTOG 0 genome.wustl.edu 37 11 17621219 17621219 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 17621219 17621219 G A SNP OTOG ENST00000399391 human ensembl 74_37 +1 known silent c.3720 p.P1240 0.189 pfam_Unchr_dom_Cys-rich,superfamily_AbfB,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 62 0 0.00 60 4 6.25 OXGR1 0 genome.wustl.edu 37 13 97639174 97639174 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 97639174 97639174 G A SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known silent c.840 p.I280 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 tier1 - - 36 0 0.00 58 10 14.49 OXGR1 0 genome.wustl.edu 37 13 97639174 97639174 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 97639174 97639174 G A SNP OXGR1 ENST00000298440 human ensembl 74_37 -1 known silent c.840 p.I280 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXGR1 HGNC ENSG00000165621 tier1 - - 47 0 0.00 58 10 14.49 PABPN1 0 genome.wustl.edu 37 14 23792618 23792618 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 23792618 23792618 A T SNP PABPN1 ENST00000216727 human ensembl 74_37 +1 known missense c.567 p.E189D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC ENSG00000100836 tier1 - - 41 0 0.00 45 6 11.76 PABPN1 0 genome.wustl.edu 37 14 23792618 23792618 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 23792618 23792618 A T SNP PABPN1 ENST00000216727 human ensembl 74_37 +1 known missense c.567 p.E189D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC ENSG00000100836 tier1 - - 61 0 0.00 45 6 11.76 PALM2-AKAP2 0 genome.wustl.edu 37 9 112899486 112899486 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 112899486 112899486 C G SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.1662 p.F554L 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 57 0 0.00 49 4 7.41 PARD3 0 genome.wustl.edu 37 10 34759145 34759145 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 34759145 34759145 G T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.450 p.G150 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 43 0 0.00 57 4 6.56 PARD3 0 genome.wustl.edu 37 10 34759145 34759145 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 34759145 34759145 G T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.450 p.G150 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 50 0 0.00 57 4 6.56 PARP4 0 genome.wustl.edu 37 13 25044067 25044067 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 25044067 25044067 C T SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.2011 p.E671K 1.000 pfam_VIT,smart_VIT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 - - 84 0 0.00 54 7 11.48 PARP4 0 genome.wustl.edu 37 13 25044067 25044067 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 25044067 25044067 C T SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.2011 p.E671K 1.000 pfam_VIT,smart_VIT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 - - 86 0 0.00 54 7 11.48 PCDH7 0 genome.wustl.edu 37 4 30724297 30724297 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 30724297 30724297 G A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.1253 p.R418H 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 15 0 0.00 10 2 16.67 PCDHA2 0 genome.wustl.edu 37 5 140175718 140175718 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 140175718 140175718 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.1169 p.T390M 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 tier1 - - 47 0 0.00 49 9 15.52 PCDHB14 0 genome.wustl.edu 37 5 140605446 140605446 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 140605446 140605446 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.2369 p.R790Q 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 80 0 0.00 56 4 6.67 PCDHB6 0 genome.wustl.edu 37 5 140530476 140530476 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 140530476 140530476 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.638 p.A213V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 45 0 0.00 19 4 17.39 PCDHGA5 0 genome.wustl.edu 37 5 140744135 140744135 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 140744135 140744135 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known nonsense c.238 p.R80* 0.001 pfam_Cadherin_N,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 PCDHGA5 HGNC ENSG00000253485 tier1 - - 30 0 0.00 42 9 17.31 PCDHGA5 0 genome.wustl.edu 37 5 140744135 140744135 + Nonsense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 140744135 140744135 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known nonsense c.238 p.R80* 0.001 pfam_Cadherin_N,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 PCDHGA5 HGNC ENSG00000253485 tier1 - - 82 0 0.00 42 9 17.31 PCDHGA6 0 genome.wustl.edu 37 5 140755519 140755519 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 140755519 140755519 G A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.1869 p.T623 0.135 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 207 0 0.00 92 9 8.91 PCDHGA6 0 genome.wustl.edu 37 5 140755519 140755519 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 140755519 140755519 G A SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.1869 p.T623 0.135 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 tier1 - - 75 0 0.00 92 9 8.91 PCLO 0 genome.wustl.edu 37 7 82584289 82584289 + Nonsense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 82584289 82584289 T A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.5980 p.R1994* 0.571 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 51 0 0.00 63 12 16.00 PCLO 0 genome.wustl.edu 37 7 82584289 82584289 + Nonsense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 82584289 82584289 T A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.5980 p.R1994* 0.571 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 72 0 0.00 63 12 16.00 PCLO 0 genome.wustl.edu 37 7 82585035 82585035 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 82585035 82585035 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5234 p.P1745L 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 51 0 0.00 64 8 11.11 PCLO 0 genome.wustl.edu 37 7 82585035 82585035 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 82585035 82585035 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.5234 p.P1745L 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 86 0 0.00 64 8 11.11 PCSK6 0 genome.wustl.edu 37 15 101845524 101845524 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 101845524 101845524 C T SNP PCSK6 ENST00000348070 human ensembl 74_37 -1 known missense c.2846 p.R949Q 0.999 pfam_PLAC,superfamily_Growth_fac_rcpt_N_dom,pfscan_PLAC pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK6 HGNC ENSG00000140479 tier1 - - 59 0 0.00 49 8 14.04 PDCD4 0 genome.wustl.edu 37 10 112658029 112658029 + RNA SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 112658029 112658029 G T SNP PDCD4 ENST00000498367 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors PDCD4 HGNC ENSG00000150593 tier1 - - 57 0 0.00 83 6 6.74 PDLIM3 0 genome.wustl.edu 37 4 186427782 186427782 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 186427782 186427782 G A SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known silent c.687 p.P229 0.666 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 tier1 - - 73 0 0.00 56 13 18.84 PDLIM3 0 genome.wustl.edu 37 4 186427782 186427782 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 186427782 186427782 G A SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known silent c.687 p.P229 0.666 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 tier1 - - 81 0 0.00 56 13 18.84 PEX5L 0 genome.wustl.edu 37 3 179519819 179519819 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 179519819 179519819 C T SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.1678 p.E560K 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 36 0 0.00 50 4 7.41 PHACTR3 0 genome.wustl.edu 37 20 58330337 58330337 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 58330337 58330337 G T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.459 p.Q153H 0.011 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 tier1 - - 23 0 0.00 24 10 28.57 PHACTR3 0 genome.wustl.edu 37 20 58330337 58330337 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 58330337 58330337 G T SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.459 p.Q153H 0.011 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 tier1 - - 63 0 0.00 24 10 28.57 PHF16 0 genome.wustl.edu 37 X 46857593 46857593 + Nonsense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 46857593 46857593 C A SNP PHF16 ENST00000218343 human ensembl 74_37 +1 known nonsense c.198 p.Y66* 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 54 0 0.00 65 4 5.80 PHF3 0 genome.wustl.edu 37 6 64422152 64422152 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 64422152 64422152 G A SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known silent c.4668 p.T1556 0.032 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 20 0 0.00 18 3 14.29 PIK3R1 0 genome.wustl.edu 37 5 67592130 67592130 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 67592130 67592130 G A SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known missense c.1970 p.R657Q 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 88 0 0.00 57 3 5.00 PITPNM2 0 genome.wustl.edu 37 12 123471081 123471081 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 123471081 123471081 A C SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.3628 p.S1210A 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 89 0 0.00 31 20 39.22 PKD1L2 0 genome.wustl.edu 37 16 81209272 81209272 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 81209272 81209272 T C SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known missense c.2521 p.T841A 0.844 pfam_PKD/REJ-like,superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 tier1 - - 59 0 0.00 44 10 18.52 PMPCB 0 genome.wustl.edu 37 7 102938093 102938093 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 102938093 102938093 A C SNP PMPCB ENST00000444457 human ensembl 74_37 +1 known missense c.187 p.S63R 0.000 NULL NULL - no_errors PMPCB HGNC ENSG00000105819 tier1 - - 55 0 0.00 55 8 12.70 PMPCB 0 genome.wustl.edu 37 7 102938093 102938093 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 102938093 102938093 A C SNP PMPCB ENST00000444457 human ensembl 74_37 +1 known missense c.187 p.S63R 0.000 NULL NULL - no_errors PMPCB HGNC ENSG00000105819 tier1 - - 82 0 0.00 55 8 12.70 POM121L9P 0 genome.wustl.edu 37 22 24648568 24648568 + RNA SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 24648568 24648568 C T SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 tier1 - - 46 0 0.00 34 6 15.00 POTEE 0 genome.wustl.edu 37 2 132021599 132021599 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 132021599 132021599 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.2571 p.D857 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 108 0 0.00 98 10 9.26 POU4F2 0 genome.wustl.edu 37 4 147561444 147561444 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 147561444 147561444 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known silent c.714 p.A238 0.998 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 POU4F2 HGNC ENSG00000151615 31 0 0.00 33 3 8.11 PPFIA3 0 genome.wustl.edu 37 19 49636266 49636266 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 49636266 49636266 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known silent c.888 p.A296 0.042 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 tier1 - - 41 0 0.00 63 4 5.97 PPFIA3 0 genome.wustl.edu 37 19 49636266 49636266 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 49636266 49636266 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known silent c.888 p.A296 0.042 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 tier1 - - 87 0 0.00 63 4 5.97 PPP1R21 0 genome.wustl.edu 37 2 48698303 48698303 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 48698303 48698303 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known silent c.975 p.I325 0.995 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 - - 57 0 0.00 68 9 11.69 PPP1R21 0 genome.wustl.edu 37 2 48698303 48698303 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 48698303 48698303 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known silent c.975 p.I325 0.995 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 - - 73 0 0.00 68 9 11.69 PRDM11 0 genome.wustl.edu 37 11 45246119 45246119 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 45246119 45246119 G T SNP PRDM11 ENST00000263765 human ensembl 74_37 +1 known missense c.1196 p.W399L 1.000 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 tier1 - - 101 0 0.00 76 8 9.52 PRDM2 0 genome.wustl.edu 37 1 14106905 14106905 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 14106905 14106905 A C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.2615 p.Q872P 0.046 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 tier1 - - 63 0 0.00 57 9 13.64 PREX2 0 genome.wustl.edu 37 8 69020462 69020462 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 69020462 69020462 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2834 p.V945G 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 74 0 0.00 97 10 9.35 PREX2 0 genome.wustl.edu 37 8 69020462 69020462 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 69020462 69020462 T G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2834 p.V945G 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 87 0 0.00 97 10 9.35 PRICKLE2-AS1 0 genome.wustl.edu 37 3 64082647 64082647 + RNA SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 64082647 64082647 C G SNP PRICKLE2-AS1 ENST00000482609 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-129B22.1 Clone_based_vega_gene ENSG00000241111 tier1 - - 93 0 0.00 128 13 9.22 PRICKLE2-AS1 0 genome.wustl.edu 37 3 64082647 64082647 + RNA SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 64082647 64082647 C G SNP PRICKLE2-AS1 ENST00000482609 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-129B22.1 Clone_based_vega_gene ENSG00000241111 tier1 - - 95 0 0.00 128 13 9.22 PRKAR1B 0 genome.wustl.edu 37 7 720337 720337 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 720337 720337 C T SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known silent c.204 p.R68 0.932 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 49 0 0.00 54 4 6.90 PROL1 0 genome.wustl.edu 37 4 71265050 71265050 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 71265050 71265050 C T SNP PROL1 ENST00000399575 human ensembl 74_37 +1 putative silent c.48 p.F16 0.375 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 tier1 - - 67 0 0.00 72 9 11.11 PROL1 0 genome.wustl.edu 37 4 71265050 71265050 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 71265050 71265050 C T SNP PROL1 ENST00000399575 human ensembl 74_37 +1 putative silent c.48 p.F16 0.375 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 tier1 - - 79 0 0.00 72 9 11.11 PRPF4 0 genome.wustl.edu 37 9 116038922 116038922 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 116038922 116038922 G T SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known missense c.125 p.R42L 1.000 NULL pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 tier1 - - 65 0 0.00 69 21 23.08 PRRC2B 0 genome.wustl.edu 37 9 134353920 134353920 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 134353920 134353920 G T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.4672 p.V1558L 0.978 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 107 0 0.00 73 5 6.41 PRRC2B 0 genome.wustl.edu 37 9 134353920 134353920 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 134353920 134353920 G T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.4672 p.V1558L 0.978 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 90 0 0.00 73 5 6.41 PTPRM 0 genome.wustl.edu 37 18 7774151 7774151 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 7774151 7774151 C A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known silent c.78 p.G26 0.976 superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,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 PTPRM HGNC ENSG00000173482 tier1 - - 91 0 0.00 99 14 12.39 PTPRS 0 genome.wustl.edu 37 19 5240212 5240212 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 5240212 5240212 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.1705 p.E569K 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 100 0 0.00 64 9 12.33 PTPRS 0 genome.wustl.edu 37 19 5240212 5240212 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 5240212 5240212 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.1705 p.E569K 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 71 0 0.00 64 9 12.33 RABGGTB 0 genome.wustl.edu 37 1 76253045 76253046 + RNA INS - - A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 76253045 76253046 - A INS RABGGTB ENST00000471759 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.002 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 11 0 0.00 8 6 42.86 RAI14 0 genome.wustl.edu 37 5 34796083 34796083 + Nonsense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 34796083 34796083 C A SNP RAI14 ENST00000508777 human ensembl 74_37 +1 known nonsense c.191 p.S64* 1.000 NULL NULL - no_errors RAI14 HGNC ENSG00000039560 tier1 - - 47 0 0.00 108 12 10.00 RAI14 0 genome.wustl.edu 37 5 34796083 34796083 + Nonsense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 34796083 34796083 C A SNP RAI14 ENST00000508777 human ensembl 74_37 +1 known nonsense c.191 p.S64* 1.000 NULL NULL - no_errors RAI14 HGNC ENSG00000039560 tier1 - - 92 0 0.00 108 12 10.00 RAPGEF3 0 genome.wustl.edu 37 12 48143256 48143256 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 48143256 48143256 G A SNP RAPGEF3 ENST00000389212 human ensembl 74_37 -1 known missense c.958 p.P320S 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF3 HGNC ENSG00000079337 tier1 - - 78 0 0.00 50 4 7.41 RARB 0 genome.wustl.edu 37 3 25502759 25502759 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 25502759 25502759 A G SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.254 p.Y85C 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 tier1 - - 56 0 0.00 80 6 6.98 RARB 0 genome.wustl.edu 37 3 25502759 25502759 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 25502759 25502759 A G SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.254 p.Y85C 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 tier1 - - 70 0 0.00 80 6 6.98 RASA1 0 genome.wustl.edu 37 5 86681138 86681138 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 86681138 86681138 G T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.2779 p.A927S 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 49 0 0.00 72 4 5.26 RASA1 0 genome.wustl.edu 37 5 86681138 86681138 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 86681138 86681138 G T SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.2779 p.A927S 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 tier1 - - 95 0 0.00 72 4 5.26 RASL11B 0 genome.wustl.edu 37 4 53729462 53729462 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 53729462 53729462 G A SNP RASL11B ENST00000248706 human ensembl 74_37 +1 known missense c.170 p.R57Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL11B HGNC ENSG00000128045 tier1 - - 71 0 0.00 63 5 7.35 RASL11B 0 genome.wustl.edu 37 4 53729462 53729462 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 53729462 53729462 G A SNP RASL11B ENST00000248706 human ensembl 74_37 +1 known missense c.170 p.R57Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL11B HGNC ENSG00000128045 tier1 - - 81 0 0.00 63 5 7.35 RBM44 0 genome.wustl.edu 37 2 238728863 238728863 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 238728863 238728863 G T SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known missense c.1785 p.M595I 0.045 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 tier1 - - 58 0 0.00 73 4 5.19 RBM44 0 genome.wustl.edu 37 2 238728863 238728863 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 238728863 238728863 G T SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known missense c.1785 p.M595I 0.045 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 tier1 - - 86 0 0.00 73 4 5.19 RBMXL1 0 genome.wustl.edu 37 1 89449059 89449059 + Nonsense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 89449059 89449059 T A SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known nonsense c.451 p.R151* 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 tier1 - - 63 0 0.00 78 11 12.36 RBMXL1 0 genome.wustl.edu 37 1 89449059 89449059 + Nonsense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 89449059 89449059 T A SNP RBMXL1 ENST00000321792 human ensembl 74_37 -1 known nonsense c.451 p.R151* 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC ENSG00000213516 tier1 - - 90 0 0.00 78 11 12.36 RC3H2 0 genome.wustl.edu 37 9 125652614 125652614 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 125652614 125652614 C A SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.560 p.R187L 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 tier1 - - 73 0 0.00 72 8 10.00 RCVRN 0 genome.wustl.edu 37 17 9808472 9808472 + Frame_Shift_Del DEL A A - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 9808472 9808472 A - DEL RCVRN ENST00000226193 human ensembl 74_37 -1 known frame_shift_del c.26 p.L9fs 1.000 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 tier1 11 0 0.00 16 4 20.00 REXO1 0 genome.wustl.edu 37 19 1816110 1816110 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 1816110 1816110 G T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known missense c.3621 p.H1207Q 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 tier1 - - 55 0 0.00 60 6 9.09 REXO1 0 genome.wustl.edu 37 19 1816110 1816110 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 1816110 1816110 G T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known missense c.3621 p.H1207Q 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 tier1 - - 91 0 0.00 60 6 9.09 RIMS1 0 genome.wustl.edu 37 6 72806711 72806711 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 72806711 72806711 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.305 p.A102V 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 66 0 0.00 62 5 7.46 RIMS1 0 genome.wustl.edu 37 6 72892087 72892087 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 72892087 72892087 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.913 p.V305I 0.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 93 0 0.00 61 4 6.15 RNF111 0 genome.wustl.edu 37 15 59383298 59383298 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 59383298 59383298 G A SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.2711 p.R904H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 41 0 0.00 68 6 8.11 RNF111 0 genome.wustl.edu 37 15 59383298 59383298 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 59383298 59383298 G A SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.2711 p.R904H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 60 0 0.00 68 6 8.11 RNF167 0 genome.wustl.edu 37 17 4847881 4847881 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 4847881 4847881 C T SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known silent c.699 p.C233 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 tier1 - - 48 0 0.00 65 4 5.71 RNF167 0 genome.wustl.edu 37 17 4847881 4847881 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 4847881 4847881 C T SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known silent c.699 p.C233 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 tier1 - - 90 0 0.00 65 4 5.71 RNGTT 0 genome.wustl.edu 37 6 89614444 89614444 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 89614444 89614444 C T SNP RNGTT ENST00000369485 human ensembl 74_37 -1 known missense c.674 p.R225Q 1.000 pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase - no_errors RNGTT HGNC ENSG00000111880 tier1 - - 122 0 0.00 98 13 11.71 ROBO2 0 genome.wustl.edu 37 3 77623656 77623656 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 77623656 77623656 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1978 p.R660C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 77 0 0.00 55 10 15.38 ROBO2 0 genome.wustl.edu 37 3 77623656 77623656 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 77623656 77623656 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1978 p.R660C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 82 0 0.00 55 10 15.38 ROR2 0 genome.wustl.edu 37 9 94484837 94484837 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 94484837 94484837 C T SNP ROR2 ENST00000375715 human ensembl 74_37 -1 putative missense c.1946 p.R649K 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 54 0 0.00 52 8 13.33 RPL36 0 genome.wustl.edu 37 19 5691411 5691411 + Nonsense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 5691411 5691411 G T SNP RPL36 ENST00000347512 human ensembl 74_37 +1 known nonsense c.175 p.E59* 1.000 pfam_Ribosomal_L36e pfam_Ribosomal_L36e - no_errors RPL36 HGNC ENSG00000130255 tier1 - - 116 0 0.00 92 9 8.82 RPL36 0 genome.wustl.edu 37 19 5691411 5691411 + Nonsense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 5691411 5691411 G T SNP RPL36 ENST00000347512 human ensembl 74_37 +1 known nonsense c.175 p.E59* 1.000 pfam_Ribosomal_L36e pfam_Ribosomal_L36e - no_errors RPL36 HGNC ENSG00000130255 tier1 - - 173 0 0.00 92 9 8.82 RSPH10B 0 genome.wustl.edu 37 7 6006528 6006528 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 6006528 6006528 C T SNP RSPH10B ENST00000337579 human ensembl 74_37 -1 known missense c.220 p.E74K 0.968 NULL pfam_MORN,smart_MORN - no_errors RSPH10B HGNC ENSG00000155026 tier1 - - 277 0 0.00 301 21 6.52 RSPH6A 0 genome.wustl.edu 37 19 46313896 46313896 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 46313896 46313896 C T SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known missense c.853 p.G285S 0.001 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 tier1 - - 59 0 0.00 31 7 18.42 RYR1 0 genome.wustl.edu 37 19 39061283 39061283 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 39061283 39061283 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.13696 p.L4566F 1.000 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 77 0 0.00 67 14 17.28 SALL1 0 genome.wustl.edu 37 16 51171162 51171162 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 51171162 51171162 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.3836 p.T1279M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 72 0 0.00 71 4 5.33 SALL1 0 genome.wustl.edu 37 16 51171162 51171162 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 51171162 51171162 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.3836 p.T1279M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 88 0 0.00 71 4 5.33 SALL1 0 genome.wustl.edu 37 16 51173271 51173271 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 51173271 51173271 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.2862 p.S954 0.020 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 25 0 0.00 21 2 8.70 SASH1 0 genome.wustl.edu 37 6 148865205 148865205 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 148865205 148865205 G A SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.2599 p.E867K 0.074 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 32 0 0.00 34 5 12.82 SCN11A 0 genome.wustl.edu 37 3 38888478 38888478 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 38888478 38888478 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.5083 p.G1695S 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 29 0 0.00 23 2 7.69 SELV 0 genome.wustl.edu 37 19 40006462 40006462 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 40006462 40006462 G A SNP SELV ENST00000423711 human ensembl 74_37 +1 known missense c.610 p.G204R 0.013 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors SELV Uniprot_gn ENSG00000186838 tier1 - - 49 0 0.00 32 4 11.11 SEMA3D 0 genome.wustl.edu 37 7 84727257 84727257 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 84727257 84727257 A T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.176 p.I59N 0.971 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 39 0 0.00 30 6 16.67 SEMA3D 0 genome.wustl.edu 37 7 84727257 84727257 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 84727257 84727257 A T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.176 p.I59N 0.971 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 44 0 0.00 30 6 16.67 SEMA5A 0 genome.wustl.edu 37 5 9202161 9202161 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 5 9202161 9202161 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.838 p.R280C 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 47 0 0.00 41 3 6.82 SETBP1 0 genome.wustl.edu 37 18 42531093 42531093 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 42531093 42531093 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.1788 p.L596 1.000 smart_AT_hook_DNA-bd_motif smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 48 0 0.00 58 7 10.77 SETBP1 0 genome.wustl.edu 37 18 42531093 42531093 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 42531093 42531093 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.1788 p.L596 1.000 smart_AT_hook_DNA-bd_motif smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 73 0 0.00 58 7 10.77 SFRP4 0 genome.wustl.edu 37 7 37955833 37955833 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 37955833 37955833 G A SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known missense c.307 p.R103C 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 tier1 - - 69 0 0.00 52 6 10.17 SH2B1 0 genome.wustl.edu 37 16 28877611 28877611 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 28877611 28877611 C T SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known missense c.196 p.R66C 1.000 pfam_Phe_ZIP,superfamily_Phe_ZIP pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 tier1 - - 44 0 0.00 31 4 11.43 SIK2 0 genome.wustl.edu 37 11 111594547 111594547 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 111594547 111594547 G A SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known silent c.2475 p.P825 0.002 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 tier1 - - 35 0 0.00 33 7 17.07 SIK2 0 genome.wustl.edu 37 11 111594547 111594547 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 111594547 111594547 G A SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known silent c.2475 p.P825 0.002 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 tier1 - - 43 0 0.00 33 7 17.07 SLC16A2 0 genome.wustl.edu 37 X 73751336 73751336 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 73751336 73751336 A G SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.1790 p.D597G 0.986 pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 34 0 0.00 28 3 9.68 SLC18A3 0 genome.wustl.edu 37 10 50820256 50820256 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 50820256 50820256 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.1470 p.P490 0.984 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 36 0 0.00 24 2 7.69 SLC25A13 0 genome.wustl.edu 37 7 95751185 95751185 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 95751185 95751185 T G SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1719 p.E573D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 tier1 - - 41 0 0.00 70 4 5.33 SLC25A13 0 genome.wustl.edu 37 7 95751185 95751185 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 95751185 95751185 T G SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1719 p.E573D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 tier1 - - 86 0 0.00 70 4 5.33 SLC35G6 0 genome.wustl.edu 37 17 7385682 7385682 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 7385682 7385682 G A SNP SLC35G6 ENST00000412468 human ensembl 74_37 +1 known missense c.379 p.A127T 0.004 pfam_DMT pfam_DMT - no_errors SLC35G6 HGNC ENSG00000259224 111 0 0.00 64 4 5.80 SLC46A2 0 genome.wustl.edu 37 9 115652626 115652626 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 115652626 115652626 C T SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known silent c.336 p.S112 0.763 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 27 0 0.00 20 3 13.04 SLC4A4 0 genome.wustl.edu 37 4 72215652 72215652 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 72215652 72215652 T C SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.413 p.V138A 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,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 72 0 0.00 66 5 7.04 SLCO1B1 0 genome.wustl.edu 37 12 21355473 21355473 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 21355473 21355473 A T SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.1184 p.Y395F 0.375 pfam_OA_transporter,pfam_MFS,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 - - 51 0 0.00 47 9 16.07 SLCO4A1 0 genome.wustl.edu 37 20 61292523 61292523 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 20 61292523 61292523 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.1117 p.P373S 1.000 pfam_OA_transporter,pfam_MFS,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 SLCO4A1 HGNC ENSG00000101187 46 0 0.00 29 3 9.38 SLFN11 0 genome.wustl.edu 37 17 33690706 33690706 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 33690706 33690706 G T SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.121 p.Q41K 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 tier1 - - 126 0 0.00 90 28 23.73 SLFN11 0 genome.wustl.edu 37 17 33690706 33690706 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 33690706 33690706 G T SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.121 p.Q41K 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 tier1 - - 154 0 0.00 90 28 23.73 SMC1B 0 genome.wustl.edu 37 22 45802390 45802391 + In_Frame_Ins INS - - TTG TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 22 45802390 45802391 0 TTG INS SMC1B ENST00000357450 human ensembl 74_37 -1 known in_frame_ins c.566_565 p.189in_frame_insT 1.000:1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 53 0 0.00 73 7 8.75 SMG1 0 genome.wustl.edu 37 16 18872019 18872019 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 18872019 18872019 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known silent c.3775 p.L1259 0.999 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 - - 413 0 0.00 464 46 9.02 SMPDL3B 0 genome.wustl.edu 37 1 28282257 28282257 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 28282257 28282257 C T SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known silent c.753 p.F251 1.000 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 tier1 - - 50 0 0.00 38 13 25.49 SMPDL3B 0 genome.wustl.edu 37 1 28282257 28282257 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 28282257 28282257 C T SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known silent c.753 p.F251 1.000 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 tier1 - - 78 0 0.00 38 13 25.49 SNORD108 0 genome.wustl.edu 37 15 25232074 25232074 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 25232074 25232074 T G SNP SNORD108 ENST00000459332 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors SNORD108 HGNC ENSG00000239014 40 0 0.00 24 3 11.11 SNX13 0 genome.wustl.edu 37 7 17873763 17873763 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 17873763 17873763 G T SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.1509 p.F503L 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 22 0 0.00 45 3 6.25 SPAG8 0 genome.wustl.edu 37 9 35809846 35809846 + RNA SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 35809846 35809846 A C SNP SPAG8 ENST00000489063 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors SPAG8 HGNC ENSG00000137098 tier1 - - 26 0 0.00 16 3 15.79 SPAG8 0 genome.wustl.edu 37 9 35809849 35809849 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 35809849 35809849 T G SNP SPAG8 ENST00000489063 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors SPAG8 HGNC ENSG00000137098 tier1 - - 26 0 0.00 17 3 15.00 SPATA31A6 0 genome.wustl.edu 37 9 43625043 43625043 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 43625043 43625043 T A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.3644 p.K1215M 0.003 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 124 0 0.00 120 33 21.57 SPATA31A6 0 genome.wustl.edu 37 9 43625043 43625043 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 43625043 43625043 T A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.3644 p.K1215M 0.003 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 174 0 0.00 120 33 21.57 SRRM5 0 genome.wustl.edu 37 19 44116950 44116950 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 44116950 44116950 C A SNP SRRM5 ENST00000526798 human ensembl 74_37 +1 known missense c.722 p.P241H 0.001 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 tier1 - - 38 0 0.00 43 4 8.51 SRRM5 0 genome.wustl.edu 37 19 44116950 44116950 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 44116950 44116950 C A SNP SRRM5 ENST00000526798 human ensembl 74_37 +1 known missense c.722 p.P241H 0.001 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 tier1 - - 55 0 0.00 43 4 8.51 ST8SIA3 0 genome.wustl.edu 37 18 55021741 55021741 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 55021741 55021741 G A SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known silent c.288 p.A96 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 tier1 - - 78 0 0.00 55 13 19.12 STAB1 0 genome.wustl.edu 37 3 52550232 52550232 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 52550232 52550232 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.4122 p.R1374 1.000 smart_EGF_laminin pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 77 0 0.00 46 4 8.00 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99943553 99943553 + RNA DEL T T - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 99943553 99943553 T - DEL STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 tier1 32 0 0.00 32 3 8.57 STARD3 0 genome.wustl.edu 37 17 37814204 37814207 + RNA DEL CCTC CCTC - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 CCTC CCTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 37814204 37814207 CCTC - DEL STARD3 ENST00000460894 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.001 - - - no_errors STARD3 HGNC ENSG00000131748 tier1 26 0 0.00 27 4 12.90 STARD8 0 genome.wustl.edu 37 X 67944242 67944242 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 67944242 67944242 C T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.3290 p.A1097V 0.000 smart_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 tier1 - - 32 0 0.00 40 4 9.09 STARD8 0 genome.wustl.edu 37 X 67944242 67944242 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd X 67944242 67944242 C T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.3290 p.A1097V 0.000 smart_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 tier1 - - 35 0 0.00 40 4 9.09 STIL 0 genome.wustl.edu 37 1 47746641 47746641 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 47746641 47746641 G T SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.1489 p.P497T 0.001 NULL NULL - no_errors STIL HGNC ENSG00000123473 67 0 0.00 62 4 6.06 STK33 0 genome.wustl.edu 37 11 8414148 8414148 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 8414148 8414148 A G SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.1454 p.M485T 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK33 HGNC ENSG00000130413 tier1 - - 108 0 0.00 112 6 5.08 STK33 0 genome.wustl.edu 37 11 8414148 8414148 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 8414148 8414148 A G SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.1454 p.M485T 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK33 HGNC ENSG00000130413 tier1 - - 136 0 0.00 112 6 5.08 SULF1 0 genome.wustl.edu 37 8 70515465 70515465 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 70515465 70515465 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1100 p.T367M 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 58 0 0.00 65 6 8.45 SULF1 0 genome.wustl.edu 37 8 70515465 70515465 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 70515465 70515465 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1100 p.T367M 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 61 0 0.00 65 6 8.45 SYT16 0 genome.wustl.edu 37 14 62536530 62536530 + Nonsense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 62536530 62536530 G T SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known nonsense c.733 p.E245* 0.940 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 tier1 - - 56 0 0.00 53 16 23.19 SYT16 0 genome.wustl.edu 37 14 62536530 62536530 + Nonsense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 62536530 62536530 G T SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known nonsense c.733 p.E245* 0.940 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 tier1 - - 58 0 0.00 53 16 23.19 SYT9 0 genome.wustl.edu 37 11 7441759 7441759 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 7441759 7441759 G A SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known missense c.1360 p.G454S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 tier1 - - 73 0 0.00 57 4 6.56 SYT9 0 genome.wustl.edu 37 11 7441759 7441759 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 7441759 7441759 G A SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known missense c.1360 p.G454S 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 tier1 - - 85 0 0.00 57 4 6.56 TBC1D1 0 genome.wustl.edu 37 4 38140081 38140082 + RNA INS - - A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 38140081 38140082 - A INS TBC1D1 ENST00000407365 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier1 20 0 0.00 19 2 9.52 TBC1D1 0 genome.wustl.edu 37 4 38140081 38140082 + RNA INS - - A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 38140081 38140082 - A INS TBC1D1 ENST00000407365 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier1 21 0 0.00 19 2 9.52 TBC1D3P2 0 genome.wustl.edu 37 17 60348791 60348791 + RNA SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 60348791 60348791 T G SNP TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 137 0 0.00 105 14 11.76 TCL6 0 genome.wustl.edu 37 14 96130203 96130203 + RNA DEL T T - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 96130203 96130203 T - DEL TCL6 ENST00000352367 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors TCL6 HGNC ENSG00000187621 tier1 9 0 0.00 3 3 50.00 TDRD10 0 genome.wustl.edu 37 1 154517281 154517281 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 154517281 154517281 C T SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known silent c.808 p.L270 0.524 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 tier1 - - 51 0 0.00 60 4 6.25 TDRD10 0 genome.wustl.edu 37 1 154517281 154517281 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 154517281 154517281 C T SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known silent c.808 p.L270 0.524 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 tier1 - - 57 0 0.00 60 4 6.25 TECPR1 0 genome.wustl.edu 37 7 97860397 97860397 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 97860397 97860397 G A SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.2161 p.R721W 1.000 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 tier1 - - 143 0 0.00 86 5 5.49 TECPR1 0 genome.wustl.edu 37 7 97860397 97860397 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 97860397 97860397 G A SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.2161 p.R721W 1.000 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 tier1 - - 42 0 0.00 86 5 5.49 TESK1 0 genome.wustl.edu 37 9 35607308 35607309 + RNA DEL TG TG - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 35607308 35607309 TG - DEL TESK1 ENST00000463897 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors TESK1 HGNC ENSG00000107140 tier1 40 0 0.00 19 3 13.64 THSD7B 0 genome.wustl.edu 37 2 138420994 138420994 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 138420994 138420994 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.4509 p.M1503I 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 74 0 0.00 95 7 6.86 THSD7B 0 genome.wustl.edu 37 2 138420994 138420994 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 138420994 138420994 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.4509 p.M1503I 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 78 0 0.00 95 7 6.86 TJP2 0 genome.wustl.edu 37 9 71836013 71836013 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 71836013 71836013 C T SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.646 p.R216W 0.001 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 24 0 0.00 14 3 17.65 TLL1 0 genome.wustl.edu 37 4 166996042 166996042 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 166996042 166996042 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.2201 p.C734F 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_EG-like_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 78 0 0.00 113 6 5.04 TLL1 0 genome.wustl.edu 37 4 166996042 166996042 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 166996042 166996042 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.2201 p.C734F 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_EG-like_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 86 0 0.00 113 6 5.04 TMEM177 0 genome.wustl.edu 37 2 120443309 120443309 + RNA SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 120443309 120443309 G A SNP TMEM177 ENST00000496203 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors TMEM177 HGNC ENSG00000144120 tier1 - - 109 0 0.00 79 6 7.06 TMEM177 0 genome.wustl.edu 37 2 120443309 120443309 + RNA SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 120443309 120443309 G A SNP TMEM177 ENST00000496203 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors TMEM177 HGNC ENSG00000144120 tier1 - - 79 0 0.00 79 6 7.06 TMEM97 0 genome.wustl.edu 37 17 26653806 26653807 + Frame_Shift_Ins INS - - A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 26653806 26653807 - A INS TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_ins c.518_519 p.K177fs 1.000:1.000 NULL pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 tier1 23 0 0.00 27 4 12.90 TNK1 0 genome.wustl.edu 37 17 7291970 7291970 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 7291970 7291970 G A SNP TNK1 ENST00000576812 human ensembl 74_37 +1 known missense c.1738 p.A580T 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK1 HGNC ENSG00000174292 tier1 - - 65 0 0.00 39 4 9.30 TP53 0 genome.wustl.edu 37 17 7578202 7578202 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 17 7578202 7578202 A T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.647 p.V216E 0.999 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 87 0 0.00 36 13 26.53 TPTE 0 genome.wustl.edu 37 21 10943021 10943021 + Splice_Site SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 10943021 10943021 C A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known splice_site c.567-1 e9-1 0.888 - - - no_errors TPTE HGNC ENSG00000166157 tier1 - - 122 0 0.00 127 12 8.63 TPTE 0 genome.wustl.edu 37 21 10943021 10943021 + Splice_Site SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 10943021 10943021 C A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known splice_site c.567-1 e9-1 0.888 - - - no_errors TPTE HGNC ENSG00000166157 tier1 - - 143 0 0.00 127 12 8.63 TRAPPC11 0 genome.wustl.edu 37 4 184615821 184615821 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 184615821 184615821 C T SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known missense c.2573 p.S858F 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 tier1 - - 112 0 0.00 81 9 10.00 TRAPPC8 0 genome.wustl.edu 37 18 29454467 29454467 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 29454467 29454467 G A SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known silent c.1929 p.L643 0.987 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 tier1 - - 34 0 0.00 63 9 12.50 TRAPPC8 0 genome.wustl.edu 37 18 29454467 29454467 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 29454467 29454467 G A SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known silent c.1929 p.L643 0.987 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 tier1 - - 58 0 0.00 63 9 12.50 TRIB1 0 genome.wustl.edu 37 8 126445713 126445713 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 126445713 126445713 G A SNP TRIB1 ENST00000311922 human ensembl 74_37 +1 known missense c.515 p.R172Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors TRIB1 HGNC ENSG00000173334 tier1 - - 42 0 0.00 40 4 9.09 TRIB1 0 genome.wustl.edu 37 8 126445713 126445713 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 126445713 126445713 G A SNP TRIB1 ENST00000311922 human ensembl 74_37 +1 known missense c.515 p.R172Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors TRIB1 HGNC ENSG00000173334 tier1 - - 63 0 0.00 40 4 9.09 TRIM39 0 genome.wustl.edu 37 6 30298569 30298569 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 30298569 30298569 G T SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known missense c.465 p.Q155H 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM39 HGNC ENSG00000204599 tier1 - - 61 0 0.00 72 5 6.49 TRIM39 0 genome.wustl.edu 37 6 30298569 30298569 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 30298569 30298569 G T SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known missense c.465 p.Q155H 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM39 HGNC ENSG00000204599 tier1 - - 63 0 0.00 72 5 6.49 TRIM60 0 genome.wustl.edu 37 4 165962598 165962598 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 165962598 165962598 C T SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known silent c.1374 p.S458 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM60 HGNC ENSG00000176979 tier1 - - 48 0 0.00 76 14 15.56 TRIM60 0 genome.wustl.edu 37 4 165962598 165962598 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 4 165962598 165962598 C T SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known silent c.1374 p.S458 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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 TRIM60 HGNC ENSG00000176979 tier1 - - 56 0 0.00 76 14 15.56 TRPC6 0 genome.wustl.edu 37 11 101374960 101374960 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 101374960 101374960 C T SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.740 p.R247Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 53 0 0.00 45 4 8.16 TRPC6 0 genome.wustl.edu 37 11 101374960 101374960 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 101374960 101374960 C T SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.740 p.R247Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 54 0 0.00 45 4 8.16 TRPM3 0 genome.wustl.edu 37 9 73461495 73461495 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 73461495 73461495 A T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.481 p.S161T 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 52 0 0.00 53 8 13.11 TRPM3 0 genome.wustl.edu 37 9 73461495 73461495 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 73461495 73461495 A T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.481 p.S161T 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 61 0 0.00 53 8 13.11 TRRAP 0 genome.wustl.edu 37 7 98550994 98550994 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 98550994 98550994 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.5647 p.G1883R 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 33 0 0.00 57 13 18.57 TRRAP 0 genome.wustl.edu 37 7 98550994 98550994 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 98550994 98550994 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.5647 p.G1883R 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 93 0 0.00 57 13 18.57 TSHZ3 0 genome.wustl.edu 37 19 31770618 31770618 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 31770618 31770618 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.81 p.D27 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 66 0 0.00 35 27 43.55 TSPEAR 0 genome.wustl.edu 37 21 45929171 45929171 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 21 45929171 45929171 C G SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.1665 p.Q555H 0.019 pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 tier1 - - 40 0 0.00 40 7 14.89 TSPYL5 0 genome.wustl.edu 37 8 98289417 98289417 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 98289417 98289417 G A SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.656 p.A219V 0.974 pfam_NAP_family pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 22 0 0.00 28 3 9.68 TTK 0 genome.wustl.edu 37 6 80751906 80751906 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 6 80751906 80751906 G A SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2561 p.R854K 0.089 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 tier1 - - 48 0 0.00 63 6 8.57 TTN 0 genome.wustl.edu 37 2 179605249 179605249 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 179605249 179605249 T G SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12198 p.K4066N 1.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 60 0 0.00 57 8 12.31 TXNDC11 0 genome.wustl.edu 37 16 11785933 11785933 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 11785933 11785933 G A SNP TXNDC11 ENST00000356957 human ensembl 74_37 -1 known silent c.1194 p.T398 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 49 0 0.00 41 3 6.82 TXNDC2 0 genome.wustl.edu 37 18 9887595 9887595 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 9887595 9887595 C G SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known missense c.1119 p.D373E 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 tier1 - - 124 0 0.00 118 16 11.94 TXNDC2 0 genome.wustl.edu 37 18 9887595 9887595 + Missense_Mutation SNP C C G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 9887595 9887595 C G SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known missense c.1119 p.D373E 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 tier1 - - 139 0 0.00 118 16 11.94 UBQLN3 0 genome.wustl.edu 37 11 5530157 5530157 + Missense_Mutation SNP A A C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 5530157 5530157 A C SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.632 p.L211R 1.000 superfamily_ARM-type_fold,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 tier1 - - 88 0 0.00 52 9 14.75 UGGT1 0 genome.wustl.edu 37 2 128870770 128870770 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 128870770 128870770 C T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.634 p.R212C 0.761 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 45 0 0.00 70 6 7.89 UGGT1 0 genome.wustl.edu 37 2 128870770 128870770 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 128870770 128870770 C T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.634 p.R212C 0.761 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 75 0 0.00 70 6 7.89 UGT1A9 0 genome.wustl.edu 37 2 234581373 234581373 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 234581373 234581373 G A SNP UGT1A9 ENST00000354728 human ensembl 74_37 +1 known missense c.793 p.V265M 0.008 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A9 HGNC ENSG00000241119 tier1 rs142414435 - 73 0 0.00 60 6 9.09 UHRF1BP1L 0 genome.wustl.edu 37 12 100444952 100444952 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 100444952 100444952 C A SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.3472 p.V1158L 0.005 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 56 0 0.00 76 10 11.63 UHRF1BP1L 0 genome.wustl.edu 37 12 100444952 100444952 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 100444952 100444952 C A SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.3472 p.V1158L 0.005 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 tier1 - - 84 0 0.00 76 10 11.63 UNC13C 0 genome.wustl.edu 37 15 54306773 54306773 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 15 54306773 54306773 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.1673 p.Q558R 0.999 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 31 0 0.00 28 4 11.43 UNC5B 0 genome.wustl.edu 37 10 73044488 73044488 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 73044488 73044488 C T SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.316 p.R106C 1.000 smart_Ig_sub pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 41 0 0.00 25 2 7.41 URGCP 0 genome.wustl.edu 37 7 43918114 43918114 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 43918114 43918114 C A SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.948 p.W316C 1.000 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 44 0 0.00 36 2 5.26 USH2A 0 genome.wustl.edu 37 1 216369967 216369967 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 216369967 216369967 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4179 p.K1393N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 75 0 0.00 53 7 11.67 USH2A 0 genome.wustl.edu 37 1 216369967 216369967 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 216369967 216369967 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4179 p.K1393N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 90 0 0.00 53 7 11.67 USP17L2 0 genome.wustl.edu 37 8 11996159 11996159 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 11996159 11996159 G A SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.111 p.L37 0.023 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 - - 158 0 0.00 125 9 6.72 USP2 0 genome.wustl.edu 37 11 119228536 119228536 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 119228536 119228536 G A SNP USP2 ENST00000260187 human ensembl 74_37 -1 known missense c.1432 p.R478C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 tier1 - - 37 0 0.00 35 5 12.50 USP2 0 genome.wustl.edu 37 11 119228536 119228536 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 119228536 119228536 G A SNP USP2 ENST00000260187 human ensembl 74_37 -1 known missense c.1432 p.R478C 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 tier1 - - 45 0 0.00 35 5 12.50 USP48 0 genome.wustl.edu 37 1 22033007 22033007 + Missense_Mutation SNP T T C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 22033007 22033007 T C SNP USP48 ENST00000308271 human ensembl 74_37 -1 known missense c.2164 p.N722D 0.999 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 - - 87 0 0.00 70 11 13.58 VGF 0 genome.wustl.edu 37 7 100806935 100806936 + Frame_Shift_Del DEL CT CT - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 100806935 100806936 CT - DEL VGF ENST00000249330 human ensembl 74_37 -1 known frame_shift_del c.1190_1189 p.R397fs 1.000:1.000 NULL NULL - no_errors VGF HGNC ENSG00000128564 tier1 47 0 0.00 45 7 13.46 VPS13A 0 genome.wustl.edu 37 9 79954671 79954671 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 79954671 79954671 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known silent c.6618 p.Q2206 0.249 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 35 0 0.00 39 5 11.36 VPS13A 0 genome.wustl.edu 37 9 79954671 79954671 + Silent SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 79954671 79954671 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known silent c.6618 p.Q2206 0.249 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 54 0 0.00 39 5 11.36 VPS33A 0 genome.wustl.edu 37 12 122750679 122750680 + RNA INS - - C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 122750679 122750680 - C INS VPS33A ENST00000542310 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors VPS33A HGNC ENSG00000139719 tier1 11 0 0.00 10 7 41.18 VWF 0 genome.wustl.edu 37 12 6155919 6155919 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 6155919 6155919 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.2251 p.A751T 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 29 0 0.00 49 4 7.55 VWF 0 genome.wustl.edu 37 12 6155919 6155919 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 12 6155919 6155919 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.2251 p.A751T 0.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 67 0 0.00 49 4 7.55 WASF2 0 genome.wustl.edu 37 1 27736341 27736341 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 27736341 27736341 G A SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known missense c.1184 p.P395L 0.995 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 tier1 - - 129 0 0.00 87 28 24.35 WBSCR17 0 genome.wustl.edu 37 7 70885939 70885939 + Silent SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 70885939 70885939 G C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.810 p.V270 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 51 0 0.00 69 6 8.00 WBSCR17 0 genome.wustl.edu 37 7 70885939 70885939 + Silent SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 70885939 70885939 G C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.810 p.V270 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 87 0 0.00 69 6 8.00 WDFY4 0 genome.wustl.edu 37 10 50098685 50098685 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 50098685 50098685 T A SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.7229 p.L2410H 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 69 0 0.00 63 6 8.57 WDFY4 0 genome.wustl.edu 37 10 50098685 50098685 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 50098685 50098685 T A SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.7229 p.L2410H 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 82 0 0.00 63 6 8.57 WNT11 0 genome.wustl.edu 37 11 75905725 75905725 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 75905725 75905725 G T SNP WNT11 ENST00000322563 human ensembl 74_37 -1 known silent c.483 p.L161 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 tier1 - - 153 0 0.00 133 10 6.99 WNT11 0 genome.wustl.edu 37 11 75905725 75905725 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 75905725 75905725 G T SNP WNT11 ENST00000322563 human ensembl 74_37 -1 known silent c.483 p.L161 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 tier1 - - 194 0 0.00 133 10 6.99 WT1 0 genome.wustl.edu 37 11 32456398 32456398 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 32456398 32456398 G A SNP WT1 ENST00000332351 human ensembl 74_37 -1 known missense c.494 p.S165F 0.993 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 tier1 - - 139 0 0.00 66 12 15.38 XIRP2 0 genome.wustl.edu 37 2 168101667 168101667 + Missense_Mutation SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 168101667 168101667 A T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.3765 p.Q1255H 0.853 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 69 0 0.00 64 10 13.51 XPNPEP1 0 genome.wustl.edu 37 10 111639974 111639974 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 10 111639974 111639974 C T SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known missense c.1154 p.C385Y 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 tier1 - - 72 0 0.00 54 18 25.00 XXYLT1 0 genome.wustl.edu 37 3 194790544 194790544 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 194790544 194790544 C T SNP XXYLT1 ENST00000310380 human ensembl 74_37 -1 known missense c.1082 p.R361K 1.000 NULL pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 tier1 - - 51 0 0.00 61 5 7.58 XXYLT1 0 genome.wustl.edu 37 3 194790544 194790544 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 3 194790544 194790544 C T SNP XXYLT1 ENST00000310380 human ensembl 74_37 -1 known missense c.1082 p.R361K 1.000 NULL pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 tier1 - - 80 0 0.00 61 5 7.58 YTHDF3 0 genome.wustl.edu 37 8 64124371 64124371 + RNA SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 64124371 64124371 A T SNP YTHDF3 ENST00000521674 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 tier1 - - 56 0 0.00 69 5 6.76 YTHDF3 0 genome.wustl.edu 37 8 64124371 64124371 + RNA SNP A A T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 8 64124371 64124371 A T SNP YTHDF3 ENST00000521674 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors YTHDF3 HGNC ENSG00000185728 tier1 - - 91 0 0.00 69 5 6.76 ZBTB25 0 genome.wustl.edu 37 14 64953924 64953924 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 14 64953924 64953924 G C SNP ZBTB25 ENST00000394715 human ensembl 74_37 -1 known missense c.1025 p.S342C 0.993 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB25 HGNC ENSG00000089775 21 0 0.00 32 3 8.57 ZBTB7B 0 genome.wustl.edu 37 1 154987149 154987149 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 154987149 154987149 G A SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.115 p.E39K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 tier1 - - 54 0 0.00 57 5 8.06 ZBTB7B 0 genome.wustl.edu 37 1 154987149 154987149 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 1 154987149 154987149 G A SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known missense c.115 p.E39K 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 tier1 - - 99 0 0.00 57 5 8.06 ZC3H18 0 genome.wustl.edu 37 16 88691110 88691110 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 88691110 88691110 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.1999 p.E667K 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 - - 68 0 0.00 66 7 9.59 ZC3H18 0 genome.wustl.edu 37 16 88691110 88691110 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 88691110 88691110 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.1999 p.E667K 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 - - 81 0 0.00 66 7 9.59 ZEB2 0 genome.wustl.edu 37 2 145156009 145156009 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 145156009 145156009 G T SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known silent c.2745 p.T915 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 49 0 0.00 49 6 10.91 ZEB2 0 genome.wustl.edu 37 2 145156009 145156009 + Silent SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 2 145156009 145156009 G T SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known silent c.2745 p.T915 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 54 0 0.00 49 6 10.91 ZMYM2 0 genome.wustl.edu 37 13 20593738 20593741 + Frame_Shift_Del DEL TCTT TCTT - TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 TCTT TCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 13 20593738 20593741 TCTT 0 DEL ZMYM2 ENST00000382869 human ensembl 74_37 +1 known frame_shift_del c.1564_1567 p.F523fs 1.000:1.000:0.998:0.994 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 81 0 0.00 84 8 8.70 ZNF143 0 genome.wustl.edu 37 11 9496117 9496117 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 9496117 9496117 G C SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known missense c.310 p.E104Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 tier1 - - 64 0 0.00 43 5 10.42 ZNF143 0 genome.wustl.edu 37 11 9496117 9496117 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 11 9496117 9496117 G C SNP ZNF143 ENST00000396602 human ensembl 74_37 +1 known missense c.310 p.E104Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF143 HGNC ENSG00000166478 tier1 - - 65 0 0.00 43 5 10.42 ZNF24 0 genome.wustl.edu 37 18 32917454 32917454 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 18 32917454 32917454 C T SNP ZNF24 ENST00000261332 human ensembl 74_37 -1 known silent c.849 p.E283 0.683 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF24 HGNC ENSG00000172466 33 0 0.00 49 4 7.55 ZNF264 0 genome.wustl.edu 37 19 57722979 57722979 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 57722979 57722979 G A SNP ZNF264 ENST00000263095 human ensembl 74_37 +1 known missense c.514 p.G172R 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 ZNF264 HGNC ENSG00000083844 tier1 - - 51 0 0.00 52 5 8.77 ZNF469 0 genome.wustl.edu 37 16 88504575 88504575 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 88504575 88504575 G C SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.10613 p.R3538T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 48 0 0.00 62 11 15.07 ZNF469 0 genome.wustl.edu 37 16 88504575 88504575 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 16 88504575 88504575 G C SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.10613 p.R3538T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 85 0 0.00 62 11 15.07 ZNF483 0 genome.wustl.edu 37 9 114304808 114304808 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 114304808 114304808 C A SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known silent c.1593 p.P531 0.627 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 tier1 - - 34 0 0.00 59 4 6.35 ZNF483 0 genome.wustl.edu 37 9 114304808 114304808 + Silent SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 114304808 114304808 C A SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known silent c.1593 p.P531 0.627 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 tier1 - - 47 0 0.00 59 4 6.35 ZNF484 0 genome.wustl.edu 37 9 95609810 95609810 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 95609810 95609810 G A SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known missense c.1265 p.A422V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 tier1 - - 55 0 0.00 66 7 9.46 ZNF484 0 genome.wustl.edu 37 9 95609810 95609810 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 9 95609810 95609810 G A SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known missense c.1265 p.A422V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 tier1 - - 74 0 0.00 66 7 9.46 ZNF548 0 genome.wustl.edu 37 19 57911126 57911126 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 57911126 57911126 C T SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.1507 p.H503Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 tier1 - - 64 0 0.00 46 4 8.00 ZNF548 0 genome.wustl.edu 37 19 57911126 57911126 + Missense_Mutation SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 57911126 57911126 C T SNP ZNF548 ENST00000336128 human ensembl 74_37 +1 known missense c.1507 p.H503Y 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF548 HGNC ENSG00000188785 tier1 - - 67 0 0.00 46 4 8.00 ZNF671 0 genome.wustl.edu 37 19 58238833 58238833 + Nonsense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 58238833 58238833 G A SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known nonsense c.64 p.R22* 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 ZNF671 HGNC ENSG00000083814 tier1 - - 115 0 0.00 93 7 7.00 ZNF671 0 genome.wustl.edu 37 19 58238833 58238833 + Nonsense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 58238833 58238833 G A SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known nonsense c.64 p.R22* 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 ZNF671 HGNC ENSG00000083814 tier1 - - 149 0 0.00 93 7 7.00 ZNF676 0 genome.wustl.edu 37 19 22375873 22375873 + Missense_Mutation SNP C C A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 22375873 22375873 C A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.75 p.E25D 0.923 superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 141 0 0.00 159 30 15.87 ZNF71 0 genome.wustl.edu 37 19 57134062 57134062 + Silent SNP C C T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 57134062 57134062 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.1407 p.G469 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 tier1 - - 101 0 0.00 71 26 26.80 ZNF727 0 genome.wustl.edu 37 7 63538841 63538841 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 63538841 63538841 A G SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.1414 p.R472G 1.000 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 ZNF727 HGNC ENSG00000257482 tier1 - - 63 0 0.00 59 6 9.23 ZNF729 0 genome.wustl.edu 37 19 22497093 22497093 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 22497093 22497093 T A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.874 p.Y292N 0.620 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 ZNF729 HGNC ENSG00000196350 tier1 - - 59 0 0.00 63 14 18.18 ZNF729 0 genome.wustl.edu 37 19 22497093 22497093 + Missense_Mutation SNP T T A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 22497093 22497093 T A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.874 p.Y292N 0.620 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 ZNF729 HGNC ENSG00000196350 tier1 - - 66 0 0.00 63 14 18.18 ZNF791 0 genome.wustl.edu 37 19 12739050 12739050 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 12739050 12739050 G C SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known missense c.707 p.R236T 0.948 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 ZNF791 HGNC ENSG00000173875 tier1 - - 76 0 0.00 68 8 10.53 ZNF791 0 genome.wustl.edu 37 19 12739050 12739050 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 12739050 12739050 G C SNP ZNF791 ENST00000343325 human ensembl 74_37 +1 known missense c.707 p.R236T 0.948 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 ZNF791 HGNC ENSG00000173875 tier1 - - 77 0 0.00 68 8 10.53 ZNF804B 0 genome.wustl.edu 37 7 88962746 88962746 + Missense_Mutation SNP T T G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 88962746 88962746 T G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.450 p.I150M 0.991 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 57 0 0.00 58 5 7.94 ZNF804B 0 genome.wustl.edu 37 7 88963101 88963101 + Missense_Mutation SNP G G T TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 7 88963101 88963101 G T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.805 p.A269S 0.908 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 21 0 0.00 19 2 9.52 ZNF813 0 genome.wustl.edu 37 19 53994532 53994532 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 53994532 53994532 A G SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.1046 p.H349R 1.000 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 ZNF813 HGNC ENSG00000198346 tier1 - - 145 0 0.00 125 24 16.11 ZNF813 0 genome.wustl.edu 37 19 53994532 53994532 + Missense_Mutation SNP A A G TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 53994532 53994532 A G SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.1046 p.H349R 1.000 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 ZNF813 HGNC ENSG00000198346 tier1 - - 155 0 0.00 125 24 16.11 ZNF90 0 genome.wustl.edu 37 19 20236360 20236361 + RNA INS - - A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 20236360 20236361 - A INS ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 0.702:0.863 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 24 0 0.00 20 3 13.04 ZSCAN1 0 genome.wustl.edu 37 19 58564838 58564838 + Missense_Mutation SNP G G A TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 278a8482-4a24-43e1-8159-cbe9868a0057 bbac2f1e-511d-41fb-a0d5-cc1bbe8f40dd 19 58564838 58564838 G A SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.646 p.E216K 0.022 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 - - 70 0 0.00 67 11 14.10