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 ABCA2 20 genome.wustl.edu 37 9 139903454 139903454 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 139903454 139903454 C A SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known silent c.6879 p.V2293 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ABCA3 21 genome.wustl.edu 37 16 2333226 2333226 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 2333226 2333226 G A SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known silent c.3996 p.L1332 0.557 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ABCA7 10347 genome.wustl.edu 37 19 1049293 1049293 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 1049293 1049293 G A SNP ABCA7 ENST00000263094 human ensembl 70_37 +1 known silent c.2409 p.L803 0.652 NULL pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ACIN1 22985 genome.wustl.edu 37 14 23564376 23564376 + Silent SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 23564376 23564376 C G SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known silent c.120 p.R40 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ACSBG1 23205 genome.wustl.edu 37 15 78485950 78485950 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 78485950 78485950 G C SNP ACSBG1 ENST00000258873 human ensembl 70_37 -1 known missense c.561 p.I187M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ADAM12 8038 genome.wustl.edu 37 10 127755362 127755362 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 127755362 127755362 C T SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known missense c.1346 p.R449H 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM12 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18776963 18776963 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 18776963 18776963 G A SNP ADAMTSL1 ENST00000380548 human ensembl 70_37 +1 novel silent c.2736 p.E912 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ADD1 118 genome.wustl.edu 37 4 2906605 2906605 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 2906605 2906605 G A SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known missense c.1276 p.D426N 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC AFAP1L1 134265 genome.wustl.edu 37 5 148697431 148697431 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 148697431 148697431 C A SNP AFAP1L1 ENST00000296721 human ensembl 70_37 +1 known silent c.1407 p.A469 0.967 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC AKAP13 11214 genome.wustl.edu 37 15 86201775 86201775 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 86201775 86201775 C T SNP AKAP13 ENST00000394518 human ensembl 70_37 +1 known nonsense c.4753 p.R1585* 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKNA 80709 genome.wustl.edu 37 9 117143510 117143510 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 117143510 117143510 C G SNP AKNA ENST00000307564 human ensembl 70_37 -1 known missense c.104 p.R35T 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ALDH1A1 216 genome.wustl.edu 37 9 75524535 75524535 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 75524535 75524535 C A SNP ALDH1A1 ENST00000297785 human ensembl 70_37 -1 known silent c.1341 p.L447 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC AMBRA1 55626 genome.wustl.edu 37 11 46564315 46564315 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 46564315 46564315 C G SNP AMBRA1 ENST00000458649 human ensembl 70_37 -1 known missense c.1252 p.E418Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139876458 139876458 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 139876458 139876458 G T SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.2599 p.V867L 0.906 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ANKLE2 23141 genome.wustl.edu 37 12 133331702 133331702 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 133331702 133331702 C T SNP ANKLE2 ENST00000357997 human ensembl 70_37 -1 known missense c.199 p.A67T 0.413 superfamily_LEM-like_dom pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM - no_errors ANKLE2 HGNC ANKRD36BP1 84832 genome.wustl.edu 37 1 168216235 168216235 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 168216235 168216235 C G SNP ANKRD36BP1 ENST00000358576 human ensembl 70_37 -1 known missense c.49 p.E17Q 0.959 NULL NULL - no_errors ANKRD36BP1 HGNC ANO4 121601 genome.wustl.edu 37 12 101491724 101491724 + Splice_Site SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 101491724 101491724 G A SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known splice_site c.2006+1 e20+1 1.000 - - - no_errors ANO4 HGNC AP5B1 91056 genome.wustl.edu 37 11 65546305 65546305 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 65546305 65546305 C A SNP AP5B1 ENST00000532090 human ensembl 70_37 -1 novel missense c.1659 p.Q553H 0.866 NULL NULL - no_errors AP5B1 HGNC APBA2 321 genome.wustl.edu 37 15 29393976 29393976 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 29393976 29393976 G A SNP APBA2 ENST00000558259 human ensembl 70_37 +1 known missense c.1513 p.E505K 1.000 pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ARGFX 503582 genome.wustl.edu 37 3 121305032 121305032 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 121305032 121305032 C T SNP ARGFX ENST00000334384 human ensembl 70_37 +1 known missense c.533 p.S178F 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ARHGAP21 57584 genome.wustl.edu 37 10 24923951 24923951 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 24923951 24923951 C T SNP ARHGAP21 ENST00000396432 human ensembl 70_37 -1 known missense c.350 p.G117E 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ARHGAP28 79822 genome.wustl.edu 37 18 6873519 6873519 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 18 6873519 6873519 G C SNP ARHGAP28 ENST00000400091 human ensembl 70_37 +1 known missense c.1066 p.D356H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ARHGAP35 2909 genome.wustl.edu 37 19 47503760 47503760 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 47503760 47503760 C T SNP ARHGAP35 ENST00000404338 human ensembl 70_37 +1 known missense c.4315 p.R1439W 0.999 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ARHGAP36 158763 genome.wustl.edu 37 X 130222682 130222682 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 130222682 130222682 C T SNP ARHGAP36 ENST00000276211 human ensembl 70_37 +1 known missense c.1567 p.P523S 0.248 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ARHGAP5 394 genome.wustl.edu 37 14 32560776 32560776 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 32560776 32560776 C T SNP ARHGAP5 ENST00000345122 human ensembl 70_37 +1 known missense c.901 p.P301S 1.000 superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156928604 156928604 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 156928604 156928604 C G SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.1432 p.D478H 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ARMC4 55130 genome.wustl.edu 37 10 28273994 28273994 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 28273994 28273994 G A SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known nonsense c.529 p.Q177* 0.889 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ASH1L-AS1 645676 genome.wustl.edu 37 1 155532244 155532244 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 155532244 155532244 G C SNP ASH1L-AS1 ENST00000594351 human ensembl 70_37 +1 known rna NULL NULL 0.041 - - - no_errors ASH1L-AS1 HGNC ASTN2 23245 genome.wustl.edu 37 9 119382606 119382606 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 119382606 119382606 G T SNP ASTN2 ENST00000313400 human ensembl 70_37 -1 known missense c.3189 p.S1063R 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ATAD3B 83858 genome.wustl.edu 37 1 1425636 1425636 + Splice_Site SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 1425636 1425636 G A SNP ATAD3B ENST00000308647 human ensembl 70_37 +1 known splice_site c.1338-1 e14-1 1.000 - - - no_errors ATAD3B HGNC ATP11C 286410 genome.wustl.edu 37 X 138813883 138813883 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 138813883 138813883 G T SNP ATP11C ENST00000327569 human ensembl 70_37 -1 known nonsense c.3329 p.S1110* 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11C HGNC ATRAID 51374 genome.wustl.edu 37 2 27438606 27438606 + Missense_Mutation SNP A A G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 27438606 27438606 A G SNP ATRAID ENST00000380171 human ensembl 70_37 +1 known missense c.637 p.N213D 0.995 pfscan_EG-like_dom pfscan_EG-like_dom - no_errors ATRAID HGNC ATXN1 6310 genome.wustl.edu 37 6 16327578 16327578 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 16327578 16327578 C G SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.964 p.E322Q 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC AURKC 6795 genome.wustl.edu 37 19 57742677 57742677 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 57742677 57742677 G A SNP AURKC ENST00000601799 human ensembl 70_37 +1 known missense c.61 p.E21K 0.000 NULL NULL - no_errors AURKC HGNC BATF3 55509 genome.wustl.edu 37 1 212870663 212870663 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 212870663 212870663 C G SNP BATF3 ENST00000478275 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors BATF3 HGNC BCLAF1 9774 genome.wustl.edu 37 6 136600994 136600994 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 136600994 136600994 G A SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.11 p.S4F 1.000 NULL NULL - no_errors BCLAF1 HGNC BDKRB1 623 genome.wustl.edu 37 14 96730334 96730334 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 96730334 96730334 C T SNP BDKRB1 ENST00000216629 human ensembl 70_37 +1 known silent c.315 p.F105 0.975 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_BK_rcpt_B1,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt - no_errors BDKRB1 HGNC BIRC6 57448 genome.wustl.edu 37 2 32772925 32772925 + Silent SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 32772925 32772925 G T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known silent c.12819 p.V4273 0.984 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC C10orf2 56652 genome.wustl.edu 37 10 102748742 102748742 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 102748742 102748742 G A SNP C10orf2 ENST00000311916 human ensembl 70_37 +1 known missense c.775 p.E259K 1.000 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC C1GALT1C1 29071 genome.wustl.edu 37 X 119760656 119760656 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 119760656 119760656 C T SNP C1GALT1C1 ENST00000304661 human ensembl 70_37 -1 known missense c.366 p.M122I 1.000 NULL NULL - no_errors C1GALT1C1 HGNC C1QBP 708 genome.wustl.edu 37 17 5342165 5342165 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 5342165 5342165 C T SNP C1QBP ENST00000225698 human ensembl 70_37 -1 known missense c.229 p.D77N 0.963 superfamily_MAM33 pfam_MAM33,superfamily_MAM33 - no_errors C1QBP HGNC C20orf26 26074 genome.wustl.edu 37 20 20054995 20054995 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 20054995 20054995 C T SNP C20orf26 ENST00000245957 human ensembl 70_37 +1 known missense c.344 p.S115F 0.800 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC C5 727 genome.wustl.edu 37 9 123783960 123783960 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 123783960 123783960 C T SNP C5 ENST00000223642 human ensembl 70_37 -1 known missense c.1129 p.D377N 0.943 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC C8B 732 genome.wustl.edu 37 1 57399128 57399128 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 57399128 57399128 C T SNP C8B ENST00000371237 human ensembl 70_37 -1 known missense c.1432 p.D478N 0.903 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC C9orf171 389799 genome.wustl.edu 37 9 135374101 135374101 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 135374101 135374101 G A SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known missense c.323 p.R108Q 1.000 NULL NULL - no_errors C9orf171 HGNC CACNA1G 8913 genome.wustl.edu 37 17 48683592 48683592 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 48683592 48683592 G A SNP CACNA1G ENST00000416767 human ensembl 70_37 +1 putative missense c.4630 p.V1544I 0.001 NULL pfam_Ion_trans_dom,prints_VDCC_T_a1su - no_errors CACNA1G HGNC CACNA1I 8911 genome.wustl.edu 37 22 40060829 40060829 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 22 40060829 40060829 C T SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.3770 p.S1257F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC CASD1 64921 genome.wustl.edu 37 7 94180766 94180766 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 94180766 94180766 G T SNP CASD1 ENST00000297273 human ensembl 70_37 +1 known missense c.1932 p.L644F 0.972 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC CCDC126 90693 genome.wustl.edu 37 7 23651037 23651037 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 23651037 23651037 C T SNP CCDC126 ENST00000307471 human ensembl 70_37 +1 known nonsense c.103 p.Q35* 1.000 NULL NULL - no_errors CCDC126 HGNC CCNJL 79616 genome.wustl.edu 37 5 159680108 159680108 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 159680108 159680108 G A SNP CCNJL ENST00000377503 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCNJL HGNC CCNJL 79616 genome.wustl.edu 37 5 159680542 159680542 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 159680542 159680542 G A SNP CCNJL ENST00000393977 human ensembl 70_37 -1 known missense c.1151 p.P384L 0.160 NULL pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC CD40LG 959 genome.wustl.edu 37 X 135732428 135732428 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 135732428 135732428 G C SNP CD40LG ENST00000370629 human ensembl 70_37 +1 known missense c.160 p.E54Q 1.000 pirsf_TNF_ligand_5,prints_TNF_ligand_5 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5 - no_errors CD40LG HGNC CD55 1604 genome.wustl.edu 37 1 207510124 207510124 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 207510124 207510124 C G SNP CD55 ENST00000314754 human ensembl 70_37 +1 known missense c.940 p.Q314E 0.656 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD55 HGNC CDCA5 113130 genome.wustl.edu 37 11 64846883 64846883 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 64846883 64846883 C A SNP CDCA5 ENST00000275517 human ensembl 70_37 -1 known missense c.620 p.G207V 0.987 pfam_Sororin pfam_Sororin - no_errors CDCA5 HGNC CDHR5 53841 genome.wustl.edu 37 11 617419 617419 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 617419 617419 C G SNP CDHR5 ENST00000358353 human ensembl 70_37 -1 known missense c.2470 p.E824Q 0.001 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC CEACAM21 90273 genome.wustl.edu 37 19 42092925 42092925 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 42092925 42092925 G A SNP CEACAM21 ENST00000482870 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CEACAM21 HGNC CELF6 60677 genome.wustl.edu 37 15 72580886 72580886 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 72580886 72580886 C G SNP CELF6 ENST00000569547 human ensembl 70_37 -1 known missense c.1167 p.Q389H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 HGNC CEP170 9859 genome.wustl.edu 37 1 243349710 243349710 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 243349710 243349710 C T SNP CEP170 ENST00000366542 human ensembl 70_37 -1 known missense c.1123 p.D375N 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC CGN 57530 genome.wustl.edu 37 1 151498167 151498167 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 151498167 151498167 G A SNP CGN ENST00000271636 human ensembl 70_37 +1 known missense c.1664 p.R555Q 0.980 NULL pfam_Myosin_tail - no_errors CGN HGNC CIT 11113 genome.wustl.edu 37 12 120159185 120159185 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 120159185 120159185 C T SNP CIT ENST00000261833 human ensembl 70_37 -1 known missense c.3535 p.E1179K 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC CIZ1 25792 genome.wustl.edu 37 9 130932385 130932385 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 130932385 130932385 C T SNP CIZ1 ENST00000538431 human ensembl 70_37 -1 known missense c.1945 p.E649K 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC CLNK 116449 genome.wustl.edu 37 4 10509620 10509620 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 10509620 10509620 C T SNP CLNK ENST00000226951 human ensembl 70_37 -1 known missense c.947 p.R316H 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC CLNK 116449 genome.wustl.edu 37 4 10542129 10542129 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 10542129 10542129 C G SNP CLNK ENST00000226951 human ensembl 70_37 -1 known missense c.591 p.Q197H 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC CLPB 81570 genome.wustl.edu 37 11 72070032 72070032 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 72070032 72070032 C A SNP CLPB ENST00000294053 human ensembl 70_37 -1 known missense c.757 p.D253Y 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B - no_errors CLPB HGNC CLVS2 134829 genome.wustl.edu 37 6 123377039 123377039 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 123377039 123377039 C A SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known missense c.764 p.P255H 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC CNNM4 26504 genome.wustl.edu 37 2 97427598 97427598 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 97427598 97427598 C T SNP CNNM4 ENST00000377075 human ensembl 70_37 +1 known nonsense c.862 p.Q288* 1.000 pfam_DUF21 pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC COG5 10466 genome.wustl.edu 37 7 107013082 107013082 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 107013082 107013082 C T SNP COG5 ENST00000297135 human ensembl 70_37 -1 known missense c.886 p.D296N 1.000 NULL pfam_COG_su5,pfam_Vps51 - no_errors COG5 HGNC COL15A1 1306 genome.wustl.edu 37 9 101747953 101747953 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 101747953 101747953 C T SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known silent c.207 p.F69 0.017 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC COL24A1 255631 genome.wustl.edu 37 1 86591519 86591519 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 86591519 86591519 G T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.500 p.A167D 1.000 pfam_Laminin_G,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 COL5A1-AS1 414316 genome.wustl.edu 37 9 137544686 137544686 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 137544686 137544686 C T SNP COL5A1-AS1 ENST00000371813 human ensembl 70_37 -1 known rna NULL NULL 0.467 - - - no_errors COL5A1-AS1 HGNC CRIM1 51232 genome.wustl.edu 37 2 36775709 36775709 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 36775709 36775709 G A SNP CRIM1 ENST00000280527 human ensembl 70_37 +1 known silent c.2976 p.K992 1.000 NULL pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC CSDE1 7812 genome.wustl.edu 37 1 115277086 115277086 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 115277086 115277086 G A SNP CSDE1 ENST00000369530 human ensembl 70_37 -1 known nonsense c.604 p.Q202* 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot - no_errors CSDE1 HGNC CSPG4P5 114817 genome.wustl.edu 37 15 84954060 84954060 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 84954060 84954060 G C SNP CSPG4P5 ENST00000456932 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CSPG4P5 HGNC CXCL3 2921 genome.wustl.edu 37 4 74903165 74903166 + RNA INS - - T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 74903165 74903166 - T INS CXCL3 ENST00000511669 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors CXCL3 HGNC CYP4F24P 388514 genome.wustl.edu 37 19 15870967 15870967 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 15870967 15870967 C G SNP CYP4F24P ENST00000587443 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CYP4F24P HGNC DAP3 7818 genome.wustl.edu 37 1 155701849 155701849 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 155701849 155701849 C G SNP DAP3 ENST00000462978 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DAP3 HGNC DCAF10 79269 genome.wustl.edu 37 9 37860308 37860308 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 37860308 37860308 G C SNP DCAF10 ENST00000461549 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DCAF10 HGNC DCAF13 25879 genome.wustl.edu 37 8 104427430 104427430 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 104427430 104427430 C G SNP DCAF13 ENST00000297579 human ensembl 70_37 +1 known missense c.212 p.S71W 0.001 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC DCHS1 8642 genome.wustl.edu 37 11 6662202 6662202 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 6662202 6662202 G A SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known nonsense c.643 p.R215* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCX 1641 genome.wustl.edu 37 X 110653588 110653588 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 110653588 110653588 C G SNP DCX ENST00000338081 human ensembl 70_37 -1 known missense c.282 p.K94N 0.995 pirsf_Doublecortin_chordata pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC DDX27 55661 genome.wustl.edu 37 20 47841461 47841461 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 47841461 47841461 C T SNP DDX27 ENST00000462328 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors DDX27 HGNC DDX3X 1654 genome.wustl.edu 37 X 41205783 41205783 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 41205783 41205783 C T SNP DDX3X ENST00000399959 human ensembl 70_37 +1 known missense c.1523 p.S508L 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC DDX60 55601 genome.wustl.edu 37 4 169196651 169196651 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 169196651 169196651 C T SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.2149 p.A717T 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC DHH 50846 genome.wustl.edu 37 12 49487995 49487995 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 49487995 49487995 C T SNP DHH ENST00000266991 human ensembl 70_37 -1 known missense c.301 p.E101K 0.994 pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog - no_errors DHH HGNC DHX38 9785 genome.wustl.edu 37 16 72132678 72132678 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 72132678 72132678 C T SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known nonsense c.751 p.R251* 0.962 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC DNAJC1 64215 genome.wustl.edu 37 10 22048229 22048229 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 22048229 22048229 C G SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1466 p.R489T 0.050 pfscan_Myb-like_dom pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC DNAJC1 64215 genome.wustl.edu 37 10 22048470 22048470 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 22048470 22048470 C T SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known missense c.1225 p.D409N 0.981 NULL pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N - no_errors DNAJC1 HGNC DOK1 1796 genome.wustl.edu 37 2 74783590 74783590 + Silent SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 74783590 74783590 C G SNP DOK1 ENST00000233668 human ensembl 70_37 +1 known silent c.795 p.L265 0.002 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC DSEL 92126 genome.wustl.edu 37 18 65180154 65180154 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 18 65180154 65180154 C T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.1722 p.M574I 1.000 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DST 667 genome.wustl.edu 37 6 56382415 56382415 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 56382415 56382415 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.18040 p.D6014H 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DST 667 genome.wustl.edu 37 6 56483917 56483917 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 56483917 56483917 C T SNP DST ENST00000370765 human ensembl 70_37 -1 known missense c.4915 p.E1639K 0.731 superfamily_Ig/albumin-bd pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC DTWD1 56986 genome.wustl.edu 37 15 49935672 49935672 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 49935672 49935672 G T SNP DTWD1 ENST00000251250 human ensembl 70_37 +1 known missense c.812 p.R271I 0.970 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC DUSP7 1849 genome.wustl.edu 37 3 52088244 52088244 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 52088244 52088244 C T SNP DUSP7 ENST00000296483 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP7 HGNC ECI2 10455 genome.wustl.edu 37 6 4116258 4116258 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 4116258 4116258 C A SNP ECI2 ENST00000380118 human ensembl 70_37 -1 known missense c.1035 p.L345F 0.980 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC EDEM3 80267 genome.wustl.edu 37 1 184681603 184681603 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 184681603 184681603 G C SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known silent c.1500 p.L500 0.036 superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC EDEM3 80267 genome.wustl.edu 37 1 184681623 184681623 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 184681623 184681623 G A SNP EDEM3 ENST00000318130 human ensembl 70_37 -1 known missense c.1480 p.H494Y 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC EFCAB6 64800 genome.wustl.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 22 44083357 44083357 C G SNP EFCAB6 ENST00000262726 human ensembl 70_37 -1 known missense c.1136 p.R379T 0.010 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000187812 0 genome.wustl.edu 37 15 76071810 76071810 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 76071810 76071810 C A SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000214719 0 genome.wustl.edu 37 17 28961213 28961213 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 28961213 28961213 G C SNP ENSG00000214719 ENST00000398849 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000215023 0 genome.wustl.edu 37 2 242741105 242741105 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 242741105 242741105 C T SNP ENSG00000215023 ENST00000437438 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC114730.5 Clone_based_vega_gene ENSG00000221817 0 genome.wustl.edu 37 10 75255357 75255357 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 75255357 75255357 G C SNP ENSG00000221817 ENST00000422977 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-137L10.6 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102303914 102303914 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 102303914 102303914 C T SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000266962 0 genome.wustl.edu 37 17 40704915 40704915 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 40704915 40704915 C G SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000269564 0 genome.wustl.edu 37 19 54292152 54292152 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 54292152 54292152 G A SNP ENSG00000269564 ENST00000597420 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors AC008753.4 Clone_based_vega_gene EPHA5 2044 genome.wustl.edu 37 4 66467429 66467429 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 66467429 66467429 C A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known silent c.840 p.G280 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_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,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_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC EPYC 1833 genome.wustl.edu 37 12 91371936 91371936 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 91371936 91371936 G A SNP EPYC ENST00000261172 human ensembl 70_37 -1 known missense c.269 p.P90L 1.000 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC FAM114A2 10827 genome.wustl.edu 37 5 153377387 153377387 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 153377387 153377387 G C SNP FAM114A2 ENST00000351797 human ensembl 70_37 -1 known missense c.1305 p.F435L 0.996 NULL pfam_DUF719 - no_errors FAM114A2 HGNC FAM126B 285172 genome.wustl.edu 37 2 201846253 201846253 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 201846253 201846253 G A SNP FAM126B ENST00000418596 human ensembl 70_37 -1 known silent c.1333 p.L445 0.402 NULL pfam_Hyccin - no_errors FAM126B HGNC FAM135B 51059 genome.wustl.edu 37 8 139165096 139165096 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 139165096 139165096 G A SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.1622 p.P541L 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC FAM155B 27112 genome.wustl.edu 37 X 68749583 68749583 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 68749583 68749583 C T SNP FAM155B ENST00000252338 human ensembl 70_37 +1 known silent c.1203 p.Y401 1.000 NULL NULL - no_errors FAM155B HGNC FAM47C 442444 genome.wustl.edu 37 X 37027934 37027934 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 37027934 37027934 C T SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.1451 p.S484F 0.000 NULL NULL - no_errors FAM47C HGNC FAT3 120114 genome.wustl.edu 37 11 92085579 92085579 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 92085579 92085579 G T SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.301 p.D101Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FBXO24 26261 genome.wustl.edu 37 7 100190413 100190413 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 100190413 100190413 C T SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known missense c.680 p.S227L 0.984 NULL pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC FIZ1 84922 genome.wustl.edu 37 19 56104929 56104929 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 56104929 56104929 G C SNP FIZ1 ENST00000221665 human ensembl 70_37 -1 known silent c.378 p.L126 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FIZ1 HGNC FKBP4 2288 genome.wustl.edu 37 12 2904331 2904331 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 2904331 2904331 C T SNP FKBP4 ENST00000001008 human ensembl 70_37 +1 known missense c.26 p.T9I 0.625 NULL pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC FNDC1 84624 genome.wustl.edu 37 6 159644608 159644608 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 159644608 159644608 C T SNP FNDC1 ENST00000297267 human ensembl 70_37 +1 known missense c.815 p.S272L 0.102 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC FOXI1 2299 genome.wustl.edu 37 5 169533237 169533237 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 169533237 169533237 G A SNP FOXI1 ENST00000306268 human ensembl 70_37 +1 known silent c.276 p.Q92 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC FOXR2 139628 genome.wustl.edu 37 X 55651041 55651041 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 55651041 55651041 G A SNP FOXR2 ENST00000339140 human ensembl 70_37 +1 known missense c.897 p.M299I 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXR2 HGNC FRAS1 80144 genome.wustl.edu 37 4 79353577 79353577 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 79353577 79353577 C T SNP FRAS1 ENST00000264895 human ensembl 70_37 +1 known missense c.5036 p.T1679I 0.061 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC FREM3 166752 genome.wustl.edu 37 4 144619899 144619899 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 144619899 144619899 C G SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.1930 p.E644Q 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC GABRA5 2558 genome.wustl.edu 37 15 27114345 27114345 + RNA SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 27114345 27114345 G T SNP GABRA5 ENST00000557449 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GABRA5 HGNC GABRB3 2562 genome.wustl.edu 37 15 26828494 26828494 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 26828494 26828494 G C SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known missense c.529 p.L177V 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC GCOM1 145781 genome.wustl.edu 37 15 57921908 57921908 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 57921908 57921908 C T SNP GCOM1 ENST00000380569 human ensembl 70_37 +1 known silent c.534 p.L178 0.450 NULL NULL - no_errors GCOM1 HGNC GEMIN5 25929 genome.wustl.edu 37 5 154272083 154272083 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 154272083 154272083 C T SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known silent c.3624 p.L1208 1.000 NULL 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 GEMIN5 HGNC GEMIN5 25929 genome.wustl.edu 37 5 154317604 154317604 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 154317604 154317604 G A SNP GEMIN5 ENST00000285873 human ensembl 70_37 -1 known silent c.90 p.F30 1.000 NULL 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 GEMIN5 HGNC GGT1 2678 genome.wustl.edu 37 22 25024698 25024698 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 22 25024698 25024698 C T SNP GGT1 ENST00000248923 human ensembl 70_37 +1 known silent c.1602 p.T534 0.000 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC GLUL 2752 genome.wustl.edu 37 1 182355367 182355367 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 182355367 182355367 C T SNP GLUL ENST00000475808 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GLUL HGNC GORASP1 64689 genome.wustl.edu 37 3 39144311 39144312 + Frame_Shift_Ins INS - - GCTT TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 39144311 39144312 - GCTT INS GORASP1 ENST00000319283 human ensembl 70_37 -1 known frame_shift_ins c.206_205 p.L69fs 1.000:1.000 pfam_GRASP55/65_PDZ,superfamily_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC GP1BA 2811 genome.wustl.edu 37 17 4836613 4836613 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 4836613 4836613 C T SNP GP1BA ENST00000329125 human ensembl 70_37 +1 known silent c.714 p.D238 0.169 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC GPR179 440435 genome.wustl.edu 37 17 36491017 36491017 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 36491017 36491017 C A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.1544 p.R515L 0.923 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR179 440435 genome.wustl.edu 37 17 36499124 36499124 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 36499124 36499124 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known silent c.549 p.V183 0.035 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR31 2853 genome.wustl.edu 37 6 167570420 167570420 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 167570420 167570420 G C SNP GPR31 ENST00000366834 human ensembl 70_37 -1 known silent c.900 p.L300 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC GPRASP1 9737 genome.wustl.edu 37 X 101911587 101911587 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 101911587 101911587 G C SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known missense c.2746 p.E916Q 0.442 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC GRIA3 2892 genome.wustl.edu 37 X 122387169 122387169 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 122387169 122387169 C T SNP GRIA3 ENST00000264357 human ensembl 70_37 +1 known missense c.284 p.S95L 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC GRM3 2913 genome.wustl.edu 37 7 86415790 86415790 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 86415790 86415790 G A SNP GRM3 ENST00000361669 human ensembl 70_37 +1 known missense c.682 p.E228K 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC GRM7 2917 genome.wustl.edu 37 3 7678036 7678036 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 7678036 7678036 C T SNP GRM7 ENST00000458641 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GRM7 HGNC GSN 2934 genome.wustl.edu 37 9 124062204 124062204 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 124062204 124062204 C T SNP GSN ENST00000373818 human ensembl 70_37 +1 known missense c.65 p.S22L 0.993 NULL pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors GSN HGNC HAS2 3037 genome.wustl.edu 37 8 122626929 122626929 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 122626929 122626929 C T SNP HAS2 ENST00000303924 human ensembl 70_37 -1 known missense c.1079 p.R360Q 1.000 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC HELZ2 85441 genome.wustl.edu 37 20 62196064 62196064 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 62196064 62196064 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.4111 p.H1371Y 1.000 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HIF1A 3091 genome.wustl.edu 37 14 62207503 62207503 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 62207503 62207503 C G SNP HIF1A ENST00000539097 human ensembl 70_37 +1 known missense c.1762 p.P588A 1.000 pfam_HIF_alpha_subunit pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC HIP1 3092 genome.wustl.edu 37 7 75172205 75172205 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 75172205 75172205 G A SNP HIP1 ENST00000336926 human ensembl 70_37 -1 known missense c.2855 p.S952L 1.000 pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ - no_errors HIP1 HGNC HIVEP3 59269 genome.wustl.edu 37 1 42049029 42049029 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 42049029 42049029 C G SNP HIVEP3 ENST00000247584 human ensembl 70_37 -1 known missense c.1440 p.E480D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC HLA-DRB6 3128 genome.wustl.edu 37 6 32522591 32522591 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 32522591 32522591 C G SNP HLA-DRB6 ENST00000411500 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors HLA-DRB6 HGNC HMGA1 3159 genome.wustl.edu 37 6 34210518 34210518 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 34210518 34210518 G C SNP HMGA1 ENST00000395004 human ensembl 70_37 +1 known missense c.165 p.K55N 1.000 prints_HMGI/HMGY,prints_AT_hook-like prints_HMGI/HMGY,prints_AT_hook-like - no_errors HMGA1 HGNC HOXC10 3226 genome.wustl.edu 37 12 54379697 54379697 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 54379697 54379697 G T SNP HOXC10 ENST00000303460 human ensembl 70_37 +1 known missense c.654 p.Q218H 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXC10 HGNC HPS3 84343 genome.wustl.edu 37 3 148880529 148880529 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 148880529 148880529 G T SNP HPS3 ENST00000296051 human ensembl 70_37 +1 known missense c.2345 p.W782L 1.000 pirsf_BLOC-2_complex_Hps3_subunit pirsf_BLOC-2_complex_Hps3_subunit - no_errors HPS3 HGNC HRNR 388697 genome.wustl.edu 37 1 152186120 152186120 + Missense_Mutation SNP A A G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 152186120 152186120 A G SNP HRNR ENST00000368801 human ensembl 70_37 -1 known missense c.7985 p.L2662S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC HS3ST3A1 9955 genome.wustl.edu 37 17 13399936 13399936 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 13399936 13399936 C T SNP HS3ST3A1 ENST00000284110 human ensembl 70_37 -1 known missense c.799 p.E267K 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC HS3ST5 222537 genome.wustl.edu 37 6 114378975 114378975 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 114378975 114378975 C G SNP HS3ST5 ENST00000312719 human ensembl 70_37 -1 known missense c.487 p.E163Q 0.998 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST5 HGNC HSD17B1 3292 genome.wustl.edu 37 17 40706695 40706695 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 40706695 40706695 C T SNP HSD17B1 ENST00000585807 human ensembl 70_37 +1 known silent c.726 p.L242 0.101 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B1 HGNC IGSF1 3547 genome.wustl.edu 37 X 130412691 130412691 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 130412691 130412691 C T SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known nonsense c.1800 p.W600* 1.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC INTS5 80789 genome.wustl.edu 37 11 62414999 62414999 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 62414999 62414999 G A SNP INTS5 ENST00000330574 human ensembl 70_37 -1 known silent c.2553 p.F851 1.000 NULL NULL - no_errors INTS5 HGNC IQCG 84223 genome.wustl.edu 37 3 197619502 197619502 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 197619502 197619502 C T SNP IQCG ENST00000265239 human ensembl 70_37 -1 known silent c.1092 p.K364 0.000 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC IQGAP1 8826 genome.wustl.edu 37 15 90972868 90972868 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 90972868 90972868 G C SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known missense c.360 p.L120F 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP1 HGNC IRAK1BP1 134728 genome.wustl.edu 37 6 79577322 79577322 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 79577322 79577322 G C SNP IRAK1BP1 ENST00000369940 human ensembl 70_37 +1 known missense c.29 p.R10P 0.987 NULL pfam_DUF541 - no_errors IRAK1BP1 HGNC ITGB7 3695 genome.wustl.edu 37 12 53589846 53589846 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 53589846 53589846 G C SNP ITGB7 ENST00000267082 human ensembl 70_37 -1 known silent c.954 p.L318 1.000 pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB7 HGNC ITIH1 3697 genome.wustl.edu 37 3 52825555 52825555 + Silent SNP T T G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 52825555 52825555 T G SNP ITIH1 ENST00000273283 human ensembl 70_37 +1 known silent c.2517 p.G839 0.869 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC JAKMIP2 9832 genome.wustl.edu 37 5 147040859 147040859 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 147040859 147040859 G C SNP JAKMIP2 ENST00000265272 human ensembl 70_37 -1 known missense c.279 p.I93M 1.000 NULL NULL - no_errors JAKMIP2 HGNC JMJD7-PLA2G4B 8681 genome.wustl.edu 37 15 42127259 42127259 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 42127259 42127259 G T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 70_37 +1 known nonsense c.310 p.E104* 1.000 NULL pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC GLTSCR1L 23506 genome.wustl.edu 37 6 42796705 42796705 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 42796705 42796705 C T SNP KIAA0240 ENST00000314073 human ensembl 70_37 +1 known nonsense c.634 p.Q212* 1.000 NULL NULL - no_errors KIAA0240 HGNC KIAA1467 57613 genome.wustl.edu 37 12 13208765 13208765 + Silent SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 13208765 13208765 C G SNP KIAA1467 ENST00000197268 human ensembl 70_37 +1 known silent c.318 p.V106 0.990 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors KIAA1467 HGNC KIAA1984 84960 genome.wustl.edu 37 9 139694867 139694867 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 139694867 139694867 C T SNP KIAA1984 ENST00000338005 human ensembl 70_37 +1 known silent c.465 p.I155 0.953 NULL NULL - no_errors KIAA1984 HGNC KIF13A 63971 genome.wustl.edu 37 6 17831361 17831361 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 17831361 17831361 G A SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known missense c.1372 p.L458F 1.000 superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC KRT74 121391 genome.wustl.edu 37 12 52967184 52967184 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 52967184 52967184 G A SNP KRT74 ENST00000305620 human ensembl 70_37 -1 known silent c.378 p.N126 0.001 NULL pfam_F,prints_Keratin_II - no_errors KRT74 HGNC KRTAP13-1 140258 genome.wustl.edu 37 21 31768787 31768787 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 21 31768787 31768787 G C SNP KRTAP13-1 ENST00000355459 human ensembl 70_37 +1 known missense c.383 p.R128T 0.961 pfam_PMG pfam_PMG - no_errors KRTAP13-1 HGNC KTN1 3895 genome.wustl.edu 37 14 56083234 56083234 + Splice_Site SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 56083234 56083234 G A SNP KTN1 ENST00000395309 human ensembl 70_37 +1 known splice_site c.524-1 e2-1 1.000 - - - no_errors KTN1 HGNC LARP4B 23185 genome.wustl.edu 37 10 875463 875463 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 875463 875463 C A SNP LARP4B ENST00000316157 human ensembl 70_37 -1 known silent c.987 p.V329 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC LCN8 138307 genome.wustl.edu 37 9 139650308 139650308 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 139650308 139650308 G A SNP LCN8 ENST00000482893 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LCN8 HGNC LGALS7B 653499 genome.wustl.edu 37 19 39281369 39281369 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 39281369 39281369 G A SNP LGALS7B ENST00000314980 human ensembl 70_37 +1 known missense c.136 p.D46N 0.022 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 LGALS7B HGNC LGALS9 3965 genome.wustl.edu 37 17 25958285 25958285 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 25958285 25958285 C T SNP LGALS9 ENST00000448970 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LGALS9 HGNC LINC00599 157627 genome.wustl.edu 37 8 9760894 9760894 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 9760894 9760894 C A SNP LINC00599 ENST00000521863 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00599 HGNC LMO7 4008 genome.wustl.edu 37 13 76374891 76374891 + Missense_Mutation SNP A A C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 76374891 76374891 A C SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.690 p.E230D 0.280 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 LMO7 4008 genome.wustl.edu 37 13 76374956 76374956 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 76374956 76374956 C G SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.755 p.S252C 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 LOC100287792 100287792 genome.wustl.edu 37 20 36305446 36305446 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 36305446 36305446 C T SNP LOC100287792 ENST00000373508 human ensembl 70_37 +1 known rna NULL NULL 0.037 - - - no_errors RP4-640H8.2 Clone_based_vega_gene LOC100289580 100289580 genome.wustl.edu 37 16 88804271 88804271 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 88804271 88804271 G A SNP LOC100289580 ENST00000440406 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1142A6.2 Clone_based_vega_gene LOC100506071 100506071 genome.wustl.edu 37 14 31353728 31353728 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 31353728 31353728 C A SNP LOC100506071 ENST00000555108 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-829H16.3 Clone_based_vega_gene LOC389033 389033 genome.wustl.edu 37 2 130680519 130680519 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 130680519 130680519 G A SNP LOC389033 ENST00000433290 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors AC079776.2 Clone_based_vega_gene LOC646278 646278 genome.wustl.edu 37 15 29034950 29034950 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 29034950 29034950 C T SNP LOC646278 ENST00000565892 human ensembl 70_37 +1 putative rna NULL NULL 0.053 - - - no_errors RP11-578F21.12 Clone_based_vega_gene LPPR4 9890 genome.wustl.edu 37 1 99771889 99771889 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 99771889 99771889 G A SNP LPPR4 ENST00000370185 human ensembl 70_37 +1 known missense c.1615 p.E539K 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_genename LRRC31 79782 genome.wustl.edu 37 3 169578463 169578463 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 169578463 169578463 C A SNP LRRC31 ENST00000316428 human ensembl 70_37 -1 known missense c.373 p.G125C 0.986 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC LRRC37A2 474170 genome.wustl.edu 37 17 44626584 44626584 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 44626584 44626584 C T SNP LRRC37A2 ENST00000333412 human ensembl 70_37 +1 known missense c.4079 p.S1360L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC LRRC41 10489 genome.wustl.edu 37 1 46750807 46750807 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 46750807 46750807 C T SNP LRRC41 ENST00000498402 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LRRC41 HGNC LRRN4 164312 genome.wustl.edu 37 20 6022388 6022388 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 6022388 6022388 C T SNP LRRN4 ENST00000378858 human ensembl 70_37 -1 known silent c.1503 p.Q501 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC MACROD2 140733 genome.wustl.edu 37 20 15866419 15866420 + In_Frame_Ins INS - - GAA TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 15866419 15866420 - GAA INS MACROD2 ENST00000310348 human ensembl 70_37 +1 known in_frame_ins c.738_739 p.250in_frame_insE 1.000:1.000 NULL pfam_A1pp,smart_A1pp,pfscan_A1pp - no_errors MACROD2 HGNC MAGEL2 54551 genome.wustl.edu 37 15 23889144 23889144 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 23889144 23889144 C T SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.1937 p.R646H 0.037 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC MAP1A 4130 genome.wustl.edu 37 15 43821253 43821253 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 43821253 43821253 G A SNP MAP1A ENST00000399453 human ensembl 70_37 +1 known missense c.7582 p.E2528K 1.000 NULL NULL - no_errors MAP1A HGNC MAP3K1 4214 genome.wustl.edu 37 5 56177460 56177460 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 56177460 56177460 G T SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel missense c.2433 p.M811I 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC MAP3K14 9020 genome.wustl.edu 37 17 43362246 43362246 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 43362246 43362246 C G SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC MAP9 79884 genome.wustl.edu 37 4 156283223 156283223 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 156283223 156283223 G A SNP MAP9 ENST00000311277 human ensembl 70_37 -1 known missense c.779 p.S260F 0.306 NULL NULL - no_errors MAP9 HGNC MAPT 4137 genome.wustl.edu 37 17 44060720 44060720 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 44060720 44060720 G A SNP MAPT ENST00000344290 human ensembl 70_37 +1 known missense c.550 p.A184T 0.000 NULL pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein - no_errors MAPT HGNC MB21D2 151963 genome.wustl.edu 37 3 192516720 192516720 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 192516720 192516720 G A SNP MB21D2 ENST00000392452 human ensembl 70_37 -1 known nonsense c.931 p.Q311* 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC MBNL1 4154 genome.wustl.edu 37 3 152018043 152018043 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 152018043 152018043 G T SNP MBNL1 ENST00000282486 human ensembl 70_37 +1 known nonsense c.61 p.E21* 1.000 smart_Znf_CCCH smart_Znf_CCCH - no_errors MBNL1 HGNC MBNL1 4154 genome.wustl.edu 37 3 152018051 152018051 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 152018051 152018051 G T SNP MBNL1 ENST00000282486 human ensembl 70_37 +1 known missense c.69 p.Q23H 1.000 smart_Znf_CCCH smart_Znf_CCCH - no_errors MBNL1 HGNC MC1R 4157 genome.wustl.edu 37 16 89981138 89981138 + RNA SNP T T C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 89981138 89981138 T C SNP MC1R ENST00000539976 human ensembl 70_37 +1 known rna NULL NULL 0.439 - - - no_errors MC1R HGNC MCC 4163 genome.wustl.edu 37 5 112418618 112418618 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 112418618 112418618 C T SNP MCC ENST00000302475 human ensembl 70_37 -1 known missense c.1153 p.G385R 1.000 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC MCTP2 55784 genome.wustl.edu 37 15 95001386 95001386 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 95001386 95001386 G C SNP MCTP2 ENST00000357742 human ensembl 70_37 +1 known missense c.2271 p.L757F 0.857 pfam_PRibTrfase_C pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC MDN1 23195 genome.wustl.edu 37 6 90402195 90402195 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 90402195 90402195 C A SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.10554 p.Q3518H 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MED13 9969 genome.wustl.edu 37 17 60038436 60038436 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 60038436 60038436 G A SNP MED13 ENST00000397786 human ensembl 70_37 -1 known nonsense c.5272 p.R1758* 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC MGA 23269 genome.wustl.edu 37 15 42000403 42000403 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 42000403 42000403 G C SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.2422 p.E808Q 1.000 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MICAL3 57553 genome.wustl.edu 37 22 18301126 18301126 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 22 18301126 18301126 G A SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known missense c.4301 p.S1434F 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC MIR639 693224 genome.wustl.edu 37 19 14640413 14640413 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 14640413 14640413 C G SNP MIR639 ENST00000384974 human ensembl 70_37 +1 known rna NULL NULL 0.594 - - - no_errors MIR639 HGNC MLKL 197259 genome.wustl.edu 37 16 74709568 74709568 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 74709568 74709568 G A SNP MLKL ENST00000308807 human ensembl 70_37 -1 known missense c.1133 p.S378L 0.912 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC MORN3 283385 genome.wustl.edu 37 12 122097188 122097188 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 122097188 122097188 C T SNP MORN3 ENST00000355329 human ensembl 70_37 -1 known missense c.212 p.R71Q 0.998 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors MORN3 HGNC MRPL37 51253 genome.wustl.edu 37 1 54675624 54675624 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 54675624 54675624 C A SNP MRPL37 ENST00000360840 human ensembl 70_37 +1 known missense c.652 p.L218I 0.000 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPL37 HGNC MRS2 57380 genome.wustl.edu 37 6 24423832 24423832 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 24423832 24423832 G C SNP MRS2 ENST00000443868 human ensembl 70_37 +1 known missense c.1251 p.K417N 0.857 NULL NULL - no_errors MRS2 HGNC MRVI1-AS1 100129827 genome.wustl.edu 37 11 10562858 10562858 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 10562858 10562858 C A SNP MRVI1-AS1 ENST00000529829 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MRVI1-AS1 HGNC MYBPC3 4607 genome.wustl.edu 37 11 47354759 47354759 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 47354759 47354759 C T SNP MYBPC3 ENST00000399249 human ensembl 70_37 -1 known missense c.3316 p.D1106N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYBPC3 HGNC MYL6 4637 genome.wustl.edu 37 12 56553368 56553368 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 56553368 56553368 C G SNP MYL6 ENST00000552297 human ensembl 70_37 +1 known rna NULL NULL 0.979 - - - no_errors MYL6 HGNC MYO5A 4644 genome.wustl.edu 37 15 52630033 52630033 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 52630033 52630033 G A SNP MYO5A ENST00000358212 human ensembl 70_37 -1 known missense c.4288 p.R1430W 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC MYO7B 4648 genome.wustl.edu 37 2 128341727 128341727 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 128341727 128341727 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.1374 p.N458 0.044 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,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 MYOC 4653 genome.wustl.edu 37 1 171605823 171605823 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 171605823 171605823 C G SNP MYOC ENST00000037502 human ensembl 70_37 -1 known missense c.757 p.E253Q 0.998 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC MYT1L 23040 genome.wustl.edu 37 2 1820143 1820143 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 1820143 1820143 C T SNP MYT1L ENST00000471668 human ensembl 70_37 -1 known rna NULL NULL 0.019 - - - no_errors MYT1L HGNC NAA15 80155 genome.wustl.edu 37 4 140281017 140281017 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 140281017 140281017 G A SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known missense c.1378 p.E460K 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NAIF1 203245 genome.wustl.edu 37 9 130829407 130829407 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 130829407 130829407 G C SNP NAIF1 ENST00000496649 human ensembl 70_37 -1 known rna NULL NULL 0.616 - - - no_errors NAIF1 HGNC NCR3 259197 genome.wustl.edu 37 6 31557651 31557651 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 31557651 31557651 C T SNP NCR3 ENST00000340027 human ensembl 70_37 -1 known missense c.296 p.R99Q 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR3 HGNC NDUFB11 54539 genome.wustl.edu 37 X 47002088 47002088 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 47002088 47002088 C G SNP NDUFB11 ENST00000276062 human ensembl 70_37 -1 known missense c.263 p.R88P 0.941 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC NEK9 91754 genome.wustl.edu 37 14 75590851 75590851 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 75590851 75590851 C T SNP NEK9 ENST00000238616 human ensembl 70_37 -1 known missense c.295 p.E99K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC NLRC5 84166 genome.wustl.edu 37 16 57104513 57104513 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 57104513 57104513 G A SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known nonsense c.4650 p.W1550* 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC NPAS3 64067 genome.wustl.edu 37 14 34269677 34269677 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 34269677 34269677 G A SNP NPAS3 ENST00000356141 human ensembl 70_37 +1 known missense c.2164 p.D722N 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS3 HGNC NSUN4 387338 genome.wustl.edu 37 1 46806552 46806552 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 46806552 46806552 C T SNP NSUN4 ENST00000474844 human ensembl 70_37 +1 known silent c.54 p.L18 0.001 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN4 HGNC NSUN4 387338 genome.wustl.edu 37 1 46808703 46808703 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 46808703 46808703 C T SNP NSUN4 ENST00000498008 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors NSUN4 HGNC NT5C2 22978 genome.wustl.edu 37 10 104860427 104860427 + RNA SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 104860427 104860427 G A SNP NT5C2 ENST00000369857 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors NT5C2 HGNC OR4S1 256148 genome.wustl.edu 37 11 48327898 48327898 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 48327898 48327898 C T SNP OR4S1 ENST00000319988 human ensembl 70_37 +1 known silent c.124 p.L42 0.012 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC OTOGL 283310 genome.wustl.edu 37 12 80651706 80651706 + Missense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 80651706 80651706 C A SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.1786 p.Q596K 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,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 - no_errors OTOGL HGNC OVCH2 341277 genome.wustl.edu 37 11 7712481 7712481 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 7712481 7712481 G T SNP OVCH2 ENST00000454689 human ensembl 70_37 -1 known missense c.1658 p.P553Q 0.000 NULL pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors OVCH2 HGNC PCDHA12 56137 genome.wustl.edu 37 5 140256735 140256735 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 140256735 140256735 G A SNP PCDHA12 ENST00000398631 human ensembl 70_37 +1 known missense c.1678 p.D560N 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC PCOLCE 5118 genome.wustl.edu 37 7 100201588 100201588 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 100201588 100201588 G A SNP PCOLCE ENST00000223061 human ensembl 70_37 +1 known missense c.211 p.E71K 0.998 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE HGNC PDE8B 8622 genome.wustl.edu 37 5 76633065 76633065 + Missense_Mutation SNP A A C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 76633065 76633065 A C SNP PDE8B ENST00000264917 human ensembl 70_37 +1 known missense c.722 p.N241T 1.000 pfam_Sig_transdc_resp-reg_receiver pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC PHGDH 26227 genome.wustl.edu 37 1 120286679 120286679 + RNA SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 120286679 120286679 G T SNP PHGDH ENST00000482968 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PHGDH HGNC PIDD 55367 genome.wustl.edu 37 11 799519 799519 + Nonsense_Mutation SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 799519 799519 C A SNP PIDD ENST00000347755 human ensembl 70_37 -1 known nonsense c.2521 p.E841* 0.236 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5 - no_errors PIDD HGNC PIDD 55367 genome.wustl.edu 37 11 800015 800015 + Splice_Site SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 800015 800015 C T SNP PIDD ENST00000347755 human ensembl 70_37 -1 known splice_site c.2275-1 e14-1 0.977 - - - no_errors PIDD HGNC PIEZO1 9780 genome.wustl.edu 37 16 88804492 88804492 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 88804492 88804492 G A SNP PIEZO1 ENST00000301015 human ensembl 70_37 -1 novel silent c.870 p.F290 0.985 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIPSL 266971 genome.wustl.edu 37 10 95720338 95720338 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 95720338 95720338 G C SNP PIPSL ENST00000480546 human ensembl 70_37 -1 putative rna NULL NULL 0.858 - - - no_errors PIPSL HGNC PIWIL2 55124 genome.wustl.edu 37 8 22141712 22141712 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 22141712 22141712 C T SNP PIWIL2 ENST00000356766 human ensembl 70_37 +1 known nonsense c.670 p.Q224* 0.596 superfamily_PAZ pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL2 HGNC PKMYT1 9088 genome.wustl.edu 37 16 3026898 3026898 + Silent SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 3026898 3026898 G T SNP PKMYT1 ENST00000262300 human ensembl 70_37 -1 known silent c.145 p.R49 0.947 pirsf_Tyr/Thr_kinase_Cdc2_inhib pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom - no_errors PKMYT1 HGNC PLEKHH2 130271 genome.wustl.edu 37 2 43924496 43924496 + Splice_Site SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 43924496 43924496 G T SNP PLEKHH2 ENST00000282406 human ensembl 70_37 +1 known splice_site c.688+1 e6+1 1.000 - - - no_errors PLEKHH2 HGNC POLQ 10721 genome.wustl.edu 37 3 121190912 121190912 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 121190912 121190912 G A SNP POLQ ENST00000264233 human ensembl 70_37 -1 known nonsense c.6643 p.Q2215* 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC PRMT7 54496 genome.wustl.edu 37 16 68371361 68371361 + Splice_Site SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 68371361 68371361 G A SNP PRMT7 ENST00000339507 human ensembl 70_37 +1 known splice_site c.392-1 e5-1 1.000 - - - no_errors PRMT7 HGNC PRMT7 54496 genome.wustl.edu 37 16 68371400 68371400 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 68371400 68371400 G C SNP PRMT7 ENST00000339507 human ensembl 70_37 +1 known missense c.430 p.E144Q 0.999 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC PROM2 150696 genome.wustl.edu 37 2 95947744 95947744 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 95947744 95947744 C T SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known silent c.1623 p.I541 0.984 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC PROSER1 80209 genome.wustl.edu 37 13 39587134 39587134 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 39587134 39587134 G C SNP PROSER1 ENST00000350125 human ensembl 70_37 -1 known missense c.2189 p.S730C 0.376 NULL NULL - no_errors PROSER1 HGNC PSCA 8000 genome.wustl.edu 37 8 143763116 143763116 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 143763116 143763116 C T SNP PSCA ENST00000505305 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PSCA HGNC PSD 5662 genome.wustl.edu 37 10 104176405 104176405 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 10 104176405 104176405 C T SNP PSD ENST00000020673 human ensembl 70_37 -1 known missense c.391 p.G131R 0.401 NULL pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC PSPC1 55269 genome.wustl.edu 37 13 20325522 20325522 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 20325522 20325522 C G SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.856 p.E286Q 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC PSPC1 55269 genome.wustl.edu 37 13 20325600 20325600 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 20325600 20325600 C G SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.778 p.E260Q 1.000 pfam_NOPS pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC PTBP1 5725 genome.wustl.edu 37 19 807868 807868 + Splice_Site SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 807868 807868 G C SNP PTBP1 ENST00000356948 human ensembl 70_37 +1 known splice_site c.1120-1 e11-1 1.000 - - - no_errors PTBP1 HGNC PTPN22 26191 genome.wustl.edu 37 1 114380957 114380957 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 114380957 114380957 G T SNP PTPN22 ENST00000359785 human ensembl 70_37 -1 known missense c.1065 p.D355E 0.001 pirsf_Non-rcpt_Tyr_Pase_8/22 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC PTPRC 5788 genome.wustl.edu 37 1 198663212 198663212 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 198663212 198663212 G A SNP PTPRC ENST00000413409 human ensembl 70_37 +1 putative missense c.166 p.D56N 0.056 NULL pfam_PTP_recept_N - no_errors PTPRC HGNC PTPRT 11122 genome.wustl.edu 37 20 40733326 40733326 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 40733326 40733326 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.3489 p.L1163 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC RAB13 5872 genome.wustl.edu 37 1 153954967 153954967 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 153954967 153954967 C G SNP RAB13 ENST00000462680 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB13 HGNC RAB31 11031 genome.wustl.edu 37 18 9792156 9792156 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 18 9792156 9792156 C T SNP RAB31 ENST00000306096 human ensembl 70_37 +1 known missense c.125 p.S42F 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB31 HGNC RASA3 22821 genome.wustl.edu 37 13 114758023 114758023 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 114758023 114758023 C T SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known missense c.2183 p.R728H 1.000 NULL pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC RASIP1 54922 genome.wustl.edu 37 19 49230285 49230285 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 49230285 49230285 C T SNP RASIP1 ENST00000222145 human ensembl 70_37 -1 known missense c.2002 p.E668K 1.000 pfscan_Dilute pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc - no_errors RASIP1 HGNC RELN 5649 genome.wustl.edu 37 7 103162496 103162496 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 103162496 103162496 C T SNP RELN ENST00000424685 human ensembl 70_37 -1 known silent c.7641 p.A2547 0.999 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RELN 5649 genome.wustl.edu 37 7 103191670 103191670 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 103191670 103191670 G A SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.6146 p.A2049V 1.000 pfam_BNR_rpt,superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC REXO1 57455 genome.wustl.edu 37 19 1816128 1816128 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 1816128 1816128 G A SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known silent c.3603 p.D1201 0.990 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 RGPD4 285190 genome.wustl.edu 37 2 108478127 108478127 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 108478127 108478127 G C SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known silent c.2136 p.L712 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC RGS5 8490 genome.wustl.edu 37 1 163117208 163117208 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 163117208 163117208 C G SNP RGS5 ENST00000313961 human ensembl 70_37 -1 known missense c.470 p.R157T 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS5 HGNC RNGTT 8732 genome.wustl.edu 37 6 89563357 89563357 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 89563357 89563357 G A SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known silent c.1023 p.L341 0.500 pfam_mRNA_cap_enzyme,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-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC SBDS 51119 genome.wustl.edu 37 7 66460307 66460307 + Missense_Mutation SNP T T A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 66460307 66460307 T A SNP SBDS ENST00000246868 human ensembl 70_37 -1 known missense c.98 p.K33I 1.000 pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS - no_errors SBDS HGNC SBF2 81846 genome.wustl.edu 37 11 10024135 10024135 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 10024135 10024135 G A SNP SBF2 ENST00000256190 human ensembl 70_37 -1 known silent c.721 p.L241 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC SBNO1 55206 genome.wustl.edu 37 12 123798237 123798237 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 123798237 123798237 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.3150 p.M1050I 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SBNO1 55206 genome.wustl.edu 37 12 123801789 123801789 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 123801789 123801789 C T SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.2914 p.D972N 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SBNO1 55206 genome.wustl.edu 37 12 123805113 123805113 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 123805113 123805113 G A SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known nonsense c.2533 p.Q845* 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SELK 58515 genome.wustl.edu 37 3 53925851 53925851 + RNA SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 53925851 53925851 C A SNP SELK ENST00000485414 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SELK Uniprot_genename SERPINA7 6906 genome.wustl.edu 37 X 105281067 105281067 + Splice_Site SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 105281067 105281067 C G SNP SERPINA7 ENST00000372563 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.521 - - - no_errors SERPINA7 HGNC SFPQ 6421 genome.wustl.edu 37 1 35654964 35654964 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 35654964 35654964 G A SNP SFPQ ENST00000357214 human ensembl 70_37 -1 known missense c.1435 p.R479C 1.000 pfam_NOPS pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors SFPQ HGNC SLC22A20 440044 genome.wustl.edu 37 11 65009468 65009468 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 65009468 65009468 G C SNP SLC22A20 ENST00000525437 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors SLC22A20 HGNC SLC9A1 6548 genome.wustl.edu 37 1 27425851 27425851 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 27425851 27425851 C T SNP SLC9A1 ENST00000490329 human ensembl 70_37 -1 known rna NULL NULL 0.012 - - - no_errors SLC9A1 HGNC SLCO4A1 28231 genome.wustl.edu 37 20 61290075 61290075 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 61290075 61290075 G C SNP SLCO4A1 ENST00000217159 human ensembl 70_37 +1 known silent c.843 p.L281 0.999 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC SLFN11 91607 genome.wustl.edu 37 17 33690730 33690730 + Missense_Mutation SNP T T C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 33690730 33690730 T C SNP SLFN11 ENST00000308377 human ensembl 70_37 -1 known missense c.97 p.K33E 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC SMEK1 55671 genome.wustl.edu 37 14 91948480 91948480 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 91948480 91948480 C G SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.355 p.E119Q 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC SNX19 399979 genome.wustl.edu 37 11 130749566 130749566 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 130749566 130749566 C T SNP SNX19 ENST00000265909 human ensembl 70_37 -1 known silent c.2799 p.L933 0.724 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC SPANXC 64663 genome.wustl.edu 37 X 140335818 140335818 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 140335818 140335818 C T SNP SPANXC ENST00000358993 human ensembl 70_37 -1 known missense c.126 p.M42I 0.002 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84606835 84606835 + Nonsense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 9 84606835 84606835 C T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known nonsense c.1450 p.Q484* 0.000 NULL NULL - no_errors SPATA31D1 HGNC SPATC1 375686 genome.wustl.edu 37 8 145095183 145095183 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 145095183 145095183 G A SNP SPATC1 ENST00000377470 human ensembl 70_37 +1 known silent c.585 p.L195 0.062 NULL NULL - no_errors SPATC1 HGNC SPTBN1 6711 genome.wustl.edu 37 2 54856551 54856551 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 54856551 54856551 G T SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.2280 p.M760I 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC SPTBN4 57731 genome.wustl.edu 37 19 41025495 41025495 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 41025495 41025495 C G SNP SPTBN4 ENST00000352632 human ensembl 70_37 +1 known missense c.3091 p.L1031V 0.674 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC SRBD1 55133 genome.wustl.edu 37 2 45800396 45800396 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 45800396 45800396 G A SNP SRBD1 ENST00000263736 human ensembl 70_37 -1 known silent c.1255 p.L419 0.991 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC SRC 6714 genome.wustl.edu 37 20 36031920 36031920 + RNA SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 36031920 36031920 C G SNP SRC ENST00000477066 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SRC HGNC ST7 7982 genome.wustl.edu 37 7 116830921 116830921 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 116830921 116830921 G A SNP ST7 ENST00000265437 human ensembl 70_37 +1 known silent c.1185 p.L395 1.000 pfam_ST7 pfam_ST7 - no_errors ST7 HGNC SYNE1 23345 genome.wustl.edu 37 6 152652986 152652986 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 152652986 152652986 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.12834 p.L4278 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TAB3 257397 genome.wustl.edu 37 X 30872913 30872913 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 30872913 30872913 G A SNP TAB3 ENST00000288422 human ensembl 70_37 -1 known missense c.869 p.S290F 0.973 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC TACSTD2 4070 genome.wustl.edu 37 1 59042151 59042151 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 59042151 59042151 G A SNP TACSTD2 ENST00000371225 human ensembl 70_37 -1 known silent c.678 p.F226 0.995 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors TACSTD2 HGNC TANC2 26115 genome.wustl.edu 37 17 61476269 61476269 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 17 61476269 61476269 G C SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.3103 p.E1035Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC TATDN2 9797 genome.wustl.edu 37 3 10312369 10312369 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 10312369 10312369 C T SNP TATDN2 ENST00000287652 human ensembl 70_37 +1 known silent c.1503 p.H501 1.000 pfam_TatD_family pfam_TatD_family - no_errors TATDN2 HGNC TBX3 6926 genome.wustl.edu 37 12 115109794 115109794 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 115109794 115109794 C T SNP TBX3 ENST00000257566 human ensembl 70_37 -1 known missense c.2084 p.R695H 1.000 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC TCOF1 6949 genome.wustl.edu 37 5 149776211 149776211 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 149776211 149776211 C T SNP TCOF1 ENST00000451292 human ensembl 70_37 +1 known missense c.4259 p.S1420F 0.085 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC TCTEX1D4 343521 genome.wustl.edu 37 1 45272313 45272313 + Missense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 45272313 45272313 G T SNP TCTEX1D4 ENST00000339355 human ensembl 70_37 -1 known missense c.28 p.R10S 0.000 NULL pfam_Tctex - no_errors TCTEX1D4 HGNC TECPR2 9895 genome.wustl.edu 37 14 102829407 102829407 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 102829407 102829407 C T SNP TECPR2 ENST00000561228 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TECPR2 HGNC TGM3 7053 genome.wustl.edu 37 20 2315841 2315841 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 2315841 2315841 G A SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known silent c.1722 p.A574 0.910 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC THAP1 55145 genome.wustl.edu 37 8 42693360 42693360 + Silent SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 42693360 42693360 G C SNP THAP1 ENST00000254250 human ensembl 70_37 -1 known silent c.387 p.L129 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP1 HGNC TMC3 342125 genome.wustl.edu 37 15 81624804 81624804 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 81624804 81624804 C T SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known missense c.3259 p.E1087K 0.010 NULL pfam_TMC - no_errors TMC3 HGNC TMCO4 255104 genome.wustl.edu 37 1 20009783 20009783 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 20009783 20009783 G A SNP TMCO4 ENST00000294543 human ensembl 70_37 -1 known missense c.1655 p.S552L 0.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC TMCO4 255104 genome.wustl.edu 37 1 20009808 20009808 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 20009808 20009808 G A SNP TMCO4 ENST00000294543 human ensembl 70_37 -1 known missense c.1630 p.R544C 0.005 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC TANGO6 79613 genome.wustl.edu 37 16 68901039 68901039 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 16 68901039 68901039 C G SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.910 p.L304V 1.000 NULL pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC TMEM237 65062 genome.wustl.edu 37 2 202494551 202494551 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 202494551 202494551 G A SNP TMEM237 ENST00000409883 human ensembl 70_37 -1 known missense c.578 p.S193L 0.230 NULL NULL - no_errors TMEM237 HGNC TNK2 10188 genome.wustl.edu 37 3 195595033 195595033 + Silent SNP C C A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 195595033 195595033 C A SNP TNK2 ENST00000381916 human ensembl 70_37 -1 known silent c.2325 p.P775 0.050 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,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_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TNK2 HGNC TNKS 8658 genome.wustl.edu 37 8 9634219 9634219 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 9634219 9634219 C T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known silent c.3957 p.T1319 0.000 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC TNNT2 7139 genome.wustl.edu 37 1 201334773 201334773 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 201334773 201334773 G A SNP TNNT2 ENST00000458432 human ensembl 70_37 -1 known missense c.265 p.P89S 1.000 NULL pfam_Troponin - no_errors TNNT2 HGNC TNR 7143 genome.wustl.edu 37 1 175360461 175360461 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 175360461 175360461 C T SNP TNR ENST00000263525 human ensembl 70_37 -1 known silent c.1470 p.Q490 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNR HGNC TOMM40L 84134 genome.wustl.edu 37 1 161198486 161198486 + RNA SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 161198486 161198486 C T SNP TOMM40L ENST00000475793 human ensembl 70_37 +1 known rna NULL NULL 0.055 - - - no_errors TOMM40L HGNC TP53BP1 7158 genome.wustl.edu 37 15 43724676 43724676 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 43724676 43724676 C G SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.3391 p.E1131Q 0.027 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TP73 7161 genome.wustl.edu 37 1 3645929 3645929 + Silent SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 3645929 3645929 G T SNP TP73 ENST00000378295 human ensembl 70_37 +1 known silent c.1113 p.L371 1.000 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TRIM36 55521 genome.wustl.edu 37 5 114466485 114466485 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 5 114466485 114466485 G A SNP TRIM36 ENST00000282369 human ensembl 70_37 -1 known silent c.1636 p.L546 0.997 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC TRIM45 80263 genome.wustl.edu 37 1 117660797 117660797 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 117660797 117660797 G A SNP TRIM45 ENST00000256649 human ensembl 70_37 -1 known nonsense c.1081 p.Q361* 0.004 NULL pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC TRMT6 51605 genome.wustl.edu 37 20 5924565 5924565 + RNA SNP T T C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 20 5924565 5924565 T C SNP TRMT6 ENST00000473131 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors TRMT6 HGNC TRMT61B 55006 genome.wustl.edu 37 2 29087905 29087905 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 29087905 29087905 C T SNP TRMT61B ENST00000306108 human ensembl 70_37 -1 known missense c.780 p.M260I 1.000 pfam_tRNA_MeTrfase_GCD14,pfam_PCMT pfam_tRNA_MeTrfase_GCD14,pfam_PCMT - no_errors TRMT61B HGNC TSSC4 10078 genome.wustl.edu 37 11 2424850 2424850 + Silent SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 2424850 2424850 C G SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known silent c.987 p.V329 0.000 NULL NULL - no_errors TSSC4 HGNC TTBK1 84630 genome.wustl.edu 37 6 43237400 43237400 + Silent SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 6 43237400 43237400 C T SNP TTBK1 ENST00000304139 human ensembl 70_37 +1 putative silent c.1713 p.L571 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC TTC17 55761 genome.wustl.edu 37 11 43400840 43400840 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 43400840 43400840 G T SNP TTC17 ENST00000039989 human ensembl 70_37 +1 known nonsense c.217 p.E73* 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1114803 1114805 + RNA DEL CCT CCT - TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 1114803 1114805 CCT - DEL TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.005:0.001 - - - no_errors TTLL10-AS1 HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1114808 1114808 + RNA DEL T T - TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 1114808 1114808 T - DEL TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TTLL10-AS1 HGNC TTLL5 23093 genome.wustl.edu 37 14 76165591 76165591 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 14 76165591 76165591 G A SNP TTLL5 ENST00000298832 human ensembl 70_37 +1 known missense c.563 p.R188Q 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC TTN 7273 genome.wustl.edu 37 2 179547593 179547593 + Silent SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 2 179547593 179547593 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.29193 p.T9731 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TXLNG 55787 genome.wustl.edu 37 X 16836838 16836838 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 16836838 16836838 G A SNP TXLNG ENST00000380122 human ensembl 70_37 +1 known missense c.244 p.E82K 0.996 NULL pfam_Taxilin_fam - no_errors TXLNG HGNC UBR1 197131 genome.wustl.edu 37 15 43270092 43270092 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 43270092 43270092 G A SNP UBR1 ENST00000290650 human ensembl 70_37 -1 known silent c.4204 p.L1402 0.991 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC UGT2B7 7364 genome.wustl.edu 37 4 69962710 69962710 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 4 69962710 69962710 G A SNP UGT2B7 ENST00000305231 human ensembl 70_37 +1 known missense c.472 p.E158K 0.997 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC USH2A 7399 genome.wustl.edu 37 1 216595454 216595454 + Missense_Mutation SNP A A C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 216595454 216595454 A C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.225 p.S75R 0.000 NULL 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 USP3 9960 genome.wustl.edu 37 15 63880981 63880981 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 63880981 63880981 G A SNP USP3 ENST00000380324 human ensembl 70_37 +1 known silent c.1296 p.L432 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP3 HGNC USPL1 10208 genome.wustl.edu 37 13 31205523 31205523 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 13 31205523 31205523 G A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.780 p.S260 0.000 pfscan_Peptidase_C19 pfscan_Peptidase_C19 - no_errors USPL1 HGNC UTP20 27340 genome.wustl.edu 37 12 101769513 101769513 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 12 101769513 101769513 G A SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.7375 p.E2459K 0.519 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC XKR4 114786 genome.wustl.edu 37 8 56015610 56015610 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 56015610 56015610 C T SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known missense c.562 p.P188S 0.039 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC XXYLT1 152002 genome.wustl.edu 37 3 194947580 194947580 + Silent SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 194947580 194947580 G A SNP XXYLT1 ENST00000310380 human ensembl 70_37 -1 known silent c.510 p.I170 0.950 NULL pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC YWHAZ 7534 genome.wustl.edu 37 8 101961105 101961105 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 8 101961105 101961105 C G SNP YWHAZ ENST00000353245 human ensembl 70_37 -1 known missense c.13 p.E5Q 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ZBED5 58486 genome.wustl.edu 37 11 10876296 10876296 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 11 10876296 10876296 C T SNP ZBED5 ENST00000413761 human ensembl 70_37 -1 putative missense c.197 p.G66E 1.000 NULL superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ZBTB47 92999 genome.wustl.edu 37 3 42700892 42700892 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 3 42700892 42700892 G T SNP ZBTB47 ENST00000232974 human ensembl 70_37 +1 known nonsense c.1045 p.E349* 0.991 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB47 HGNC ZNF182 7569 genome.wustl.edu 37 X 47836511 47836511 + Missense_Mutation SNP T T A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 47836511 47836511 T A SNP ZNF182 ENST00000305127 human ensembl 70_37 -1 known missense c.975 p.K325N 0.998 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 ZNF182 HGNC ZNF326 284695 genome.wustl.edu 37 1 90482950 90482950 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 1 90482950 90482950 C G SNP ZNF326 ENST00000340281 human ensembl 70_37 +1 known missense c.1001 p.S334C 0.999 pfam_AKAP95 pfam_AKAP95 - no_errors ZNF326 HGNC ZNF45 7596 genome.wustl.edu 37 19 44418462 44418462 + Nonsense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 44418462 44418462 G A SNP ZNF45 ENST00000269973 human ensembl 70_37 -1 known nonsense c.1126 p.Q376* 0.100 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 ZNF45 HGNC ZNF507 22847 genome.wustl.edu 37 19 32845666 32845666 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 32845666 32845666 C T SNP ZNF507 ENST00000311921 human ensembl 70_37 +1 known missense c.1930 p.R644C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ZNF543 125919 genome.wustl.edu 37 19 57839243 57839243 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 57839243 57839243 G A SNP ZNF543 ENST00000321545 human ensembl 70_37 +1 known missense c.413 p.G138E 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 ZNF543 HGNC ZNF626 199777 genome.wustl.edu 37 19 20829110 20829110 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 20829110 20829110 C G SNP ZNF626 ENST00000601440 human ensembl 70_37 -1 known missense c.105 p.E35D 0.887 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ZNF677 342926 genome.wustl.edu 37 19 53740238 53740238 + Nonsense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 53740238 53740238 G C SNP ZNF677 ENST00000333952 human ensembl 70_37 -1 known nonsense c.1742 p.S581* 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 ZNF677 HGNC ZNF680 340252 genome.wustl.edu 37 7 64023445 64023445 + RNA SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 64023445 64023445 G C SNP ZNF680 ENST00000473601 human ensembl 70_37 -1 known rna NULL NULL 0.206 - - - no_errors ZNF680 HGNC ZNF711 7552 genome.wustl.edu 37 X 84520160 84520160 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc X 84520160 84520160 G A SNP ZNF711 ENST00000395402 human ensembl 70_37 +1 known missense c.749 p.S250N 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ZNF790 388536 genome.wustl.edu 37 19 37310175 37310175 + Missense_Mutation SNP C C G TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 37310175 37310175 C G SNP ZNF790 ENST00000356725 human ensembl 70_37 -1 known missense c.1071 p.Q357H 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 ZNF790 HGNC ZNF791 163049 genome.wustl.edu 37 19 12738878 12738878 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 12738878 12738878 G A SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known missense c.535 p.E179K 0.980 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 ZNF804B 219578 genome.wustl.edu 37 7 88962994 88962994 + Missense_Mutation SNP C C T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 7 88962994 88962994 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.698 p.S233F 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ZNF85 7639 genome.wustl.edu 37 19 21131718 21131718 + Missense_Mutation SNP G G A TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 19 21131718 21131718 G A SNP ZNF85 ENST00000328178 human ensembl 70_37 +1 known missense c.398 p.G133E 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 ZNF85 HGNC ZWILCH 55055 genome.wustl.edu 37 15 66816043 66816043 + Missense_Mutation SNP G G C TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq dd9fd43b-adc3-44ee-a69a-f5d3215af715 53421a70-b8ac-4854-80bd-9cb42930b9fc 15 66816043 66816043 G C SNP ZWILCH ENST00000307897 human ensembl 70_37 +1 known missense c.776 p.R259T 1.000 pfam_RZZ-complex_zwilch pfam_RZZ-complex_zwilch - no_errors ZWILCH HGNC