Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AASS 0 genome.wustl.edu 37 7 121773700 121773700 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 121773700 121773700 G A SNP AASS ENST00000393376 human ensembl 74_37 -1 known silent c.81 p.A27 0.030 NULL pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 tier1 rs138449792 - 76 0 0.00 22 31 58.49 ABCA12 0 genome.wustl.edu 37 2 215890486 215890486 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 215890486 215890486 G T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.1198 p.Q400K 0.995 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 71 0 0.00 42 15 26.32 ABCC9 0 genome.wustl.edu 37 12 21967598 21967598 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 21967598 21967598 C A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.4082 p.R1361I 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 30 0 0.00 16 4 20.00 ADAM7 0 genome.wustl.edu 37 8 24356795 24356795 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 24356795 24356795 C A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known nonsense c.1889 p.S630* 0.179 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 tier1 - - 86 0 0.00 31 17 34.69 ADAMTS12 0 genome.wustl.edu 37 5 33549398 33549398 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 33549398 33549398 G T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.4216 p.Q1406K 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 53 0 0.00 34 11 24.44 ADAMTS12 0 genome.wustl.edu 37 5 33751528 33751528 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 33751528 33751528 C A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.615 p.E205D 0.590 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 100 0 0.00 39 24 38.10 ADAMTS19 0 genome.wustl.edu 37 5 128994320 128994320 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 128994320 128994320 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2297 p.C766Y 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 103 0 0.00 57 11 16.18 ADAMTS2 0 genome.wustl.edu 37 5 178771118 178771118 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 178771118 178771118 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.184 p.V62M 0.905 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 11 0 0.00 6 4 40.00 ADAMTS5 0 genome.wustl.edu 37 21 28296469 28296469 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 21 28296469 28296469 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.2696 p.T899M 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 tier1 - - 47 0 0.00 15 4 21.05 ADAP2 0 genome.wustl.edu 37 17 29283354 29283354 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 29283354 29283354 G T SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known missense c.978 p.W326C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 tier1 - - 45 0 0.00 29 5 14.71 ADCY3 0 genome.wustl.edu 37 2 25063423 25063423 + RNA SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 25063423 25063423 C A SNP ADCY3 ENST00000454027 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADCY3 HGNC ENSG00000138031 tier1 - - 32 0 0.00 12 9 42.86 ADORA2A 0 genome.wustl.edu 37 22 24829476 24829476 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 24829476 24829476 G T SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.104 p.S35I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 tier1 - - 35 0 0.00 16 15 48.39 AHNAK2 0 genome.wustl.edu 37 14 105418203 105418203 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 105418203 105418203 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.3585 p.A1195 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 107 0 0.00 61 18 22.78 AK9 0 genome.wustl.edu 37 6 109814603 109814603 + Missense_Mutation SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 109814603 109814603 G C SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.5705 p.S1902C 0.969 NULL pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 tier1 - - 79 0 0.00 37 16 30.19 AKR1C7P 0 genome.wustl.edu 37 10 5319143 5319143 + RNA DEL A A - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 5319143 5319143 A - DEL AKR1C7P ENST00000432689 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors AKR1C7P HGNC ENSG00000215267 tier1 23 0 0.00 11 3 21.43 ALG12 0 genome.wustl.edu 37 22 50297536 50297536 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 50297536 50297536 G T SNP ALG12 ENST00000330817 human ensembl 74_37 -1 known missense c.1417 p.H473N 0.016 NULL pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 tier1 - - 79 0 0.00 14 21 60.00 ALOX12B 0 genome.wustl.edu 37 17 7976605 7976605 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 7976605 7976605 G T SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1787 p.P596Q 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 tier1 - - 57 0 0.00 19 18 48.65 AMBRA1 0 genome.wustl.edu 37 11 46563773 46563773 + Silent SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 46563773 46563773 G C SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.1794 p.S598 0.981 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 46 0 0.00 29 6 17.14 ANK2 0 genome.wustl.edu 37 4 114276416 114276416 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 114276416 114276416 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.6642 p.P2214 0.041 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 18 0 0.00 10 5 33.33 ANKRD30A 0 genome.wustl.edu 37 10 37419184 37419184 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 37419184 37419184 G A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.220 p.A74T 0.977 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 94 0 0.00 27 15 34.88 AP4E1 0 genome.wustl.edu 37 15 51289591 51289591 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 51289591 51289591 C T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known silent c.2415 p.G805 0.000 pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 tier1 - - 43 0 0.00 23 15 39.47 AQPEP 0 genome.wustl.edu 37 5 115298609 115298609 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 115298609 115298609 C A SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.295 p.P99T 0.998 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 tier1 - - 19 0 0.00 18 4 18.18 ARFGEF2 0 genome.wustl.edu 37 20 47538456 47538456 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 20 47538456 47538456 C A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.30 p.F10L 1.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 33 0 0.00 43 3 6.52 ARID1A 0 genome.wustl.edu 37 1 27057934 27057934 + Nonsense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 27057934 27057934 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.1642 p.Q548* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 65 0 0.00 15 24 61.54 ARPC4-TTLL3 0 genome.wustl.edu 37 3 9843356 9843356 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 9843356 9843356 C A SNP ARPC4-TTLL3 ENST00000397256 human ensembl 74_37 +1 known silent c.246 p.I82 0.520 pfam_ARPC4 pfam_TTL/TTLL_fam,pfam_ARPC4 - no_errors ARPC4-TTLL3 HGNC ENSG00000250151 tier1 - - 93 0 0.00 41 24 36.92 ASIC2 0 genome.wustl.edu 37 17 31415904 31415904 + Missense_Mutation SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 31415904 31415904 A G SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.964 p.F322L 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 tier1 - - 39 0 0.00 18 10 35.71 ASIC4 0 genome.wustl.edu 37 2 220396515 220396515 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 220396515 220396515 C T SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known silent c.999 p.N333 0.998 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 tier1 rs148269786 - 29 0 0.00 17 17 50.00 ATP11A 0 genome.wustl.edu 37 13 113487324 113487324 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 13 113487324 113487324 G A SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.1546 p.E516K 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 tier1 - - 56 0 0.00 28 8 22.22 ATP5H 0 genome.wustl.edu 37 17 73036203 73036203 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 73036203 73036203 G A SNP ATP5H ENST00000301587 human ensembl 74_37 -1 known missense c.275 p.A92V 1.000 pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt - no_errors ATP5H HGNC ENSG00000167863 tier1 - - 41 0 0.00 35 4 10.26 ATP6AP1L 0 genome.wustl.edu 37 5 81679584 81679585 + RNA INS - - T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 81679584 81679585 - T INS ATP6AP1L ENST00000502523 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.002 - - - no_errors ATP6AP1L HGNC ENSG00000205464 tier1 13 0 0.00 10 2 16.67 BAG6 0 genome.wustl.edu 37 6 31612087 31612087 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 31612087 31612087 C T SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known missense c.1552 p.A518T 0.925 NULL pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors BAG6 HGNC ENSG00000204463 tier1 - - 27 0 0.00 27 7 20.59 BAI3 0 genome.wustl.edu 37 6 69653794 69653794 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 69653794 69653794 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1103 p.R368I 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 151 0 0.00 77 32 29.36 BBS7 0 genome.wustl.edu 37 4 122789146 122789146 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 122789146 122789146 G T SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.92 p.A31D 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 tier1 - - 93 0 0.00 51 8 13.56 BCKDHA 0 genome.wustl.edu 37 19 41928277 41928277 + Splice_Site SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 41928277 41928277 T C SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known splice_site c.955+2 e6+2 1.000 - - - no_errors BCKDHA HGNC ENSG00000248098 tier1 - - 49 0 0.00 18 19 51.35 BRD7 0 genome.wustl.edu 37 16 50402113 50402113 + Frame_Shift_Del DEL A A - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 50402113 50402113 A - DEL BRD7 ENST00000394689 human ensembl 74_37 -1 known frame_shift_del c.146 p.F49fs 1.000 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 tier1 63 0 0.00 20 6 23.08 BRIP1 0 genome.wustl.edu 37 17 59934422 59934422 + Nonsense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 59934422 59934422 G A SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known nonsense c.376 p.Q126* 0.986 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 tier1 - - 108 0 0.00 42 24 36.36 C11orf63 0 genome.wustl.edu 37 11 122756568 122756568 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 122756568 122756568 G T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.11 p.R4L 0.001 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 tier1 - - 47 0 0.00 42 4 8.70 C18orf25 0 genome.wustl.edu 37 18 43796527 43796527 + Silent SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 18 43796527 43796527 A G SNP C18orf25 ENST00000282059 human ensembl 74_37 +1 known silent c.681 p.S227 1.000 NULL NULL - no_errors C18orf25 HGNC ENSG00000152242 tier1 - - 57 0 0.00 25 3 10.71 C1orf177 0 genome.wustl.edu 37 1 55273285 55273285 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 55273285 55273285 C A SNP C1orf177 ENST00000371273 human ensembl 74_37 +1 known silent c.279 p.A93 1.000 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 tier1 - - 59 0 0.00 30 10 25.00 C22orf34 0 genome.wustl.edu 37 22 49834849 49834849 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 49834849 49834849 C T SNP C22orf34 ENST00000414287 human ensembl 74_37 -1 known missense c.68 p.R23Q 0.000 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 tier1 - - 30 0 0.00 13 9 40.91 C3orf30 0 genome.wustl.edu 37 3 118865907 118865907 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 118865907 118865907 G T SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.871 p.D291Y 0.008 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 tier1 - - 40 0 0.00 25 9 26.47 C3orf33 0 genome.wustl.edu 37 3 155493558 155493558 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 155493558 155493558 C T SNP C3orf33 ENST00000340171 human ensembl 74_37 -1 known missense c.254 p.R85Q 0.142 superfamily_Staphylococal_nuclease_OB-fold superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 tier1 - - 109 0 0.00 87 24 21.62 C6orf118 0 genome.wustl.edu 37 6 165693524 165693524 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 165693524 165693524 C T SNP C6orf118 ENST00000491176 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 62 0 0.00 37 5 11.90 C6orf132 0 genome.wustl.edu 37 6 42074752 42074752 + Frame_Shift_Del DEL G G - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 42074752 42074752 G - DEL C6orf132 ENST00000341865 human ensembl 74_37 -1 putative frame_shift_del c.898 p.R300fs 0.912 NULL NULL - no_errors C6orf132 HGNC ENSG00000188112 tier1 24 0 0.00 20 2 9.09 CABIN1 0 genome.wustl.edu 37 22 24451336 24451336 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 24451336 24451336 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.807 p.T269 0.987 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 - - 38 0 0.00 13 3 18.75 CACNA2D1 0 genome.wustl.edu 37 7 81978910 81978910 + Missense_Mutation SNP C C G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 81978910 81978910 C G SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.151 p.A51P 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 43 0 0.00 40 10 20.00 CAPN3 0 genome.wustl.edu 37 15 42702844 42702844 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 42702844 42702844 G A SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known missense c.2243 p.R748Q 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 40 0 0.00 31 2 6.06 CAPRIN1 0 genome.wustl.edu 37 11 34119305 34119305 + Nonsense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 34119305 34119305 C T SNP CAPRIN1 ENST00000341394 human ensembl 74_37 +1 known nonsense c.2062 p.R688* 1.000 NULL pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 tier1 - - 49 0 0.00 30 7 18.92 CASP7 0 genome.wustl.edu 37 10 115457341 115457341 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 115457341 115457341 C T SNP CASP7 ENST00000369321 human ensembl 74_37 +1 known missense c.188 p.S63L 0.830 NULL pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP7 HGNC ENSG00000165806 tier1 - - 124 0 0.00 60 26 30.23 CBWD1 0 genome.wustl.edu 37 9 146221 146222 + RNA INS - - A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 146221 146222 - A INS CBWD1 ENST00000475411 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors CBWD1 HGNC ENSG00000172785 tier1 191 0 0.00 119 44 26.99 CCDC158 0 genome.wustl.edu 37 4 77288833 77288833 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 77288833 77288833 C A SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known nonsense c.1444 p.E482* 0.993 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 tier1 - - 75 0 0.00 47 6 11.32 CCDC19 0 genome.wustl.edu 37 1 159862985 159862985 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 159862985 159862985 G T SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known silent c.114 p.L38 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 tier1 - - 59 0 0.00 41 4 8.89 CCDC40 0 genome.wustl.edu 37 17 78058694 78058694 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 78058694 78058694 C A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2142 p.S714R 0.553 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 tier1 - - 23 0 0.00 14 4 22.22 CCDC8 0 genome.wustl.edu 37 19 46914593 46914593 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 46914593 46914593 C T SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.1475 p.R492H 0.001 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 tier1 - - 33 0 0.00 21 7 25.00 CCDC80 0 genome.wustl.edu 37 3 112358493 112358493 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 112358493 112358493 C T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.260 p.R87H 0.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 tier1 - - 71 0 0.00 46 12 20.69 CCDC85A 0 genome.wustl.edu 37 2 56570088 56570088 + Nonsense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 56570088 56570088 C T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known nonsense c.1315 p.Q439* 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 46 0 0.00 18 11 37.93 CCT7 0 genome.wustl.edu 37 2 73476151 73476151 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 73476151 73476151 C T SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known silent c.816 p.N272 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 tier1 - - 28 0 0.00 19 11 36.67 CD163 0 genome.wustl.edu 37 12 7655084 7655084 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 7655084 7655084 G T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known silent c.123 p.T41 0.001 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 26 0 0.00 20 5 19.23 CD86 0 genome.wustl.edu 37 3 121810570 121810570 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 121810570 121810570 G T SNP CD86 ENST00000483949 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD86 HGNC ENSG00000114013 tier1 - - 86 0 0.00 41 18 30.51 CDH3 0 genome.wustl.edu 37 16 68712425 68712425 + Missense_Mutation SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 68712425 68712425 G C SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.412 p.D138H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 tier1 - - 61 0 0.00 14 17 54.84 CDH9 0 genome.wustl.edu 37 5 26988397 26988397 + Missense_Mutation SNP A A T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 26988397 26988397 A T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.44 p.M15K 0.019 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 56 0 0.00 30 23 43.40 CDHR3 0 genome.wustl.edu 37 7 105621432 105621432 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 105621432 105621432 G T SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known nonsense c.268 p.E90* 0.662 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 tier1 - - 58 0 0.00 49 5 9.26 CERS4 0 genome.wustl.edu 37 19 8316045 8316045 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 8316045 8316045 G T SNP CERS4 ENST00000251363 human ensembl 74_37 +1 known missense c.85 p.D29Y 0.982 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS4 HGNC ENSG00000090661 tier1 - - 47 0 0.00 23 7 23.33 CHM 0 genome.wustl.edu 37 X 85218945 85218945 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 85218945 85218945 C A SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.427 p.D143Y 0.004 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 tier1 - - 30 0 0.00 13 17 56.67 CHST1 0 genome.wustl.edu 37 11 45671280 45671280 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 45671280 45671280 C T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.1194 p.S398 0.316 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 tier1 - - 82 0 0.00 56 23 29.11 CMYA5 0 genome.wustl.edu 37 5 79024983 79024983 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 79024983 79024983 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.395 p.R132Q 0.994 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 32 0 0.00 17 7 29.17 CNOT4 0 genome.wustl.edu 37 7 135069431 135069431 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 135069431 135069431 C A SNP CNOT4 ENST00000356162 human ensembl 74_37 -1 known missense c.1298 p.R433I 0.098 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 tier1 - - 111 0 0.00 111 14 11.20 COL6A3 0 genome.wustl.edu 37 2 238232882 238232882 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 238232882 238232882 G T SNP COL6A3 ENST00000473258 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 39 0 0.00 22 8 25.81 COL7A1 0 genome.wustl.edu 37 3 48607184 48607184 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 48607184 48607184 C A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.7531 p.G2511W 0.750 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 29 0 0.00 21 5 19.23 COL8A1 0 genome.wustl.edu 37 3 99514427 99514427 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 99514427 99514427 C A SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.1682 p.P561H 1.000 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 tier1 - - 43 0 0.00 25 7 21.88 CPA5 0 genome.wustl.edu 37 7 129989932 129989932 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 129989932 129989932 C A SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known silent c.315 p.I105 0.981 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 40 0 0.00 32 6 15.79 CPNE6 0 genome.wustl.edu 37 14 24542190 24542190 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 24542190 24542190 G A SNP CPNE6 ENST00000537691 human ensembl 74_37 +1 known missense c.210 p.M70I 1.000 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 tier1 - - 66 0 0.00 56 6 9.68 CPNE8 0 genome.wustl.edu 37 12 39155952 39155952 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 39155952 39155952 C T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known silent c.642 p.K214 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 59 0 0.00 38 2 5.00 CSNK1A1L 0 genome.wustl.edu 37 13 37679185 37679185 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 13 37679185 37679185 C A SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known missense c.209 p.G70V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 tier1 - - 96 0 0.00 57 33 36.67 CXCR2 0 genome.wustl.edu 37 2 218999903 218999903 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 218999903 218999903 G T SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known nonsense c.379 p.E127* 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 tier1 - - 94 0 0.00 44 24 35.29 CYP4F29P 0 genome.wustl.edu 37 21 15218392 15218392 + RNA SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 21 15218392 15218392 C A SNP CYP4F29P ENST00000428301 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors CYP4F29P HGNC ENSG00000228314 tier1 - - 73 0 0.00 45 15 25.00 DAP3 0 genome.wustl.edu 37 1 155657818 155657818 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 155657818 155657818 G T SNP DAP3 ENST00000461479 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DAP3 HGNC ENSG00000132676 tier1 - - 58 0 0.00 42 4 8.70 DCBLD2 0 genome.wustl.edu 37 3 98568374 98568374 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 98568374 98568374 G T SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.502 p.L168M 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 tier1 - - 52 0 0.00 25 14 35.90 DDX28 0 genome.wustl.edu 37 16 68055808 68055808 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 68055808 68055808 G T SNP DDX28 ENST00000332395 human ensembl 74_37 -1 known missense c.1298 p.A433D 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 46 0 0.00 26 2 7.14 DEGS2 0 genome.wustl.edu 37 14 100615693 100615693 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 100615693 100615693 G A SNP DEGS2 ENST00000305631 human ensembl 74_37 -1 known missense c.437 p.T146M 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC ENSG00000168350 tier1 - - 62 0 0.00 25 18 41.86 DENND4B 0 genome.wustl.edu 37 1 153905496 153905496 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 153905496 153905496 G T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.3464 p.S1155Y 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 38 0 0.00 25 8 24.24 DENND5A 0 genome.wustl.edu 37 11 9202321 9202321 + Missense_Mutation SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 9202321 9202321 A G SNP DENND5A ENST00000328194 human ensembl 74_37 -1 known missense c.1448 p.L483P 1.000 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 51 0 0.00 39 3 7.14 DFNA5 0 genome.wustl.edu 37 7 24749999 24749999 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 24749999 24749999 G T SNP DFNA5 ENST00000342947 human ensembl 74_37 -1 known missense c.706 p.L236I 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DFNA5 HGNC ENSG00000105928 tier1 - - 75 0 0.00 67 6 8.22 DGKH 0 genome.wustl.edu 37 13 42773722 42773722 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 13 42773722 42773722 G T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.2306 p.C769F 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 tier1 - - 68 0 0.00 44 13 22.81 DHCR7 0 genome.wustl.edu 37 11 71146570 71146570 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 71146570 71146570 G T SNP DHCR7 ENST00000355527 human ensembl 74_37 -1 known missense c.1279 p.L427M 0.996 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24 - no_errors DHCR7 HGNC ENSG00000172893 tier1 - - 78 0 0.00 70 27 27.84 DIDO1 0 genome.wustl.edu 37 20 61522367 61522367 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 20 61522367 61522367 G T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.3486 p.I1162 0.896 pfam_SPOC_C pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 72 0 0.00 37 16 30.19 DIRAS2 0 genome.wustl.edu 37 9 93376008 93376008 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 93376008 93376008 C A SNP DIRAS2 ENST00000375765 human ensembl 74_37 -1 known missense c.102 p.E34D 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS2 HGNC ENSG00000165023 tier1 - - 49 0 0.00 29 5 14.71 DKK2 0 genome.wustl.edu 37 4 107847018 107847018 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 107847018 107847018 C A SNP DKK2 ENST00000285311 human ensembl 74_37 -1 novel missense c.311 p.R104L 1.000 pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd - no_errors DKK2 HGNC ENSG00000155011 tier1 - - 62 0 0.00 19 8 29.63 DNAH3 0 genome.wustl.edu 37 16 20975682 20975682 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 20975682 20975682 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.9524 p.R3175H 0.006 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 rs199787492 - 97 0 0.00 44 8 15.38 DNAH5 0 genome.wustl.edu 37 5 13817729 13817729 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 13817729 13817729 C A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.6916 p.D2306Y 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 81 0 0.00 51 6 10.53 DNAH7 0 genome.wustl.edu 37 2 196722321 196722321 + Frame_Shift_Del DEL T T - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 196722321 196722321 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.8194 p.I2732fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 57 0 0.00 28 2 6.67 DNAJC13 0 genome.wustl.edu 37 3 132211267 132211267 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 132211267 132211267 G T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.3633 p.M1211I 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 38 0 0.00 36 12 25.00 DNER 0 genome.wustl.edu 37 2 230223312 230223312 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 230223312 230223312 C A SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.2158 p.D720Y 1.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 tier1 - - 49 0 0.00 38 7 15.56 DNM1P47 0 genome.wustl.edu 37 15 102304579 102304579 + RNA SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 102304579 102304579 G C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 rs7169206 - 23 0 0.00 14 6 30.00 DOCK3 0 genome.wustl.edu 37 3 51418911 51418911 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 51418911 51418911 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.6014 p.R2005H 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 21 0 0.00 3 5 62.50 DOCK8 0 genome.wustl.edu 37 9 325713 325713 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 325713 325713 C A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.870 p.L290 0.994 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 67 0 0.00 39 13 25.00 DR1 0 genome.wustl.edu 37 1 93812309 93812309 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 93812309 93812309 G T SNP DR1 ENST00000370267 human ensembl 74_37 +1 known missense c.107 p.R36L 1.000 pfam_CBFA_NFYB_domain,superfamily_Histone-fold pfam_CBFA_NFYB_domain,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 - no_errors DR1 HGNC ENSG00000117505 tier1 - - 44 0 0.00 18 9 33.33 DTHD1 0 genome.wustl.edu 37 4 36285736 36285736 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 36285736 36285736 C A SNP DTHD1 ENST00000456874 human ensembl 74_37 +1 known missense c.35 p.S12Y 0.336 NULL pfam_Death_domain,superfamily_DEATH-like_dom,pfscan_Death_domain - no_errors DTHD1 HGNC ENSG00000197057 tier1 - - 27 0 0.00 7 4 36.36 DYNC2H1 0 genome.wustl.edu 37 11 103040912 103040912 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 103040912 103040912 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known nonsense c.5044 p.G1682* 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 70 0 0.00 30 11 26.83 EFCAB1 0 genome.wustl.edu 37 8 49647687 49647687 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 49647687 49647687 C T SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known silent c.24 p.K8 0.998 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 tier1 - - 80 0 0.00 40 19 32.20 EFCAB6 0 genome.wustl.edu 37 22 44168882 44168882 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 44168882 44168882 G T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.241 p.L81M 0.984 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 tier1 - - 53 0 0.00 19 9 32.14 EFEMP2 0 genome.wustl.edu 37 11 65638797 65638797 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 65638797 65638797 C T SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known silent c.198 p.K66 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 tier1 - - 76 0 0.00 76 11 12.64 ENSG00000221717 0 genome.wustl.edu 37 10 128245580 128245580 + RNA DEL A A - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 128245580 128245580 A - DEL ENSG00000221717 ENST00000408790 human ensembl 74_37 -1 novel rna NULL NULL 0.006 - - - no_errors AL583860.1 Clone_based_ensembl_gene ENSG00000221717 tier1 17 0 0.00 6 4 40.00 ENSG00000223291 0 genome.wustl.edu 37 6 12753981 12753981 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 12753981 12753981 G T SNP ENSG00000223291 ENST00000411359 human ensembl 74_37 +1 novel rna NULL NULL 0.014 - - - no_errors AL354680.1 Clone_based_ensembl_gene ENSG00000223291 tier1 - - 80 0 0.00 47 17 26.56 ENSG00000223804 0 genome.wustl.edu 37 1 143663980 143663980 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 143663980 143663980 C T SNP ENSG00000223804 ENST00000440199 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors RP6-206I17.1 Clone_based_vega_gene ENSG00000223804 tier1 - - 108 0 0.00 56 10 15.15 ENSG00000232941 0 genome.wustl.edu 37 8 52730449 52730449 + Silent SNP A A C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 52730449 52730449 A C SNP ENSG00000232941 ENST00000415643 human ensembl 74_37 +1 known silent c.48 p.S16 0.001 NULL NULL - no_errors AC090186.1 Clone_based_ensembl_gene ENSG00000232941 tier1 - - 20 0 0.00 16 6 26.09 ENSG00000251199 0 genome.wustl.edu 37 4 135248519 135248519 + RNA SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 135248519 135248519 G A SNP ENSG00000251199 ENST00000504728 human ensembl 74_37 -1 known rna NULL NULL 0.983 - - - no_errors RP11-400D2.2 Clone_based_vega_gene ENSG00000251199 50 0 0.00 30 3 9.09 ENSG00000268059 0 genome.wustl.edu 37 6 13621098 13621098 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 13621098 13621098 G A SNP ENSG00000268059 ENST00000600057 human ensembl 74_37 -1 novel silent c.24 p.F8 0.001 NULL NULL - no_errors AL441883.1 Clone_based_ensembl_gene ENSG00000268059 tier1 - - 58 0 0.00 25 14 35.90 ENSG00000272990 0 genome.wustl.edu 37 3 156241549 156241549 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 156241549 156241549 G T SNP ENSG00000272990 ENST00000609190 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-305K5.1 Clone_based_vega_gene ENSG00000272990 tier1 - - 47 0 0.00 44 8 15.38 EPB41L4A 0 genome.wustl.edu 37 5 111598196 111598196 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 111598196 111598196 C T SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.637 p.V213I 1.000 pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 tier1 - - 39 0 0.00 24 7 22.58 EPHA6 0 genome.wustl.edu 37 3 97202843 97202843 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 97202843 97202843 C A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2140 p.H714N 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 71 0 0.00 54 4 6.90 EPS15 0 genome.wustl.edu 37 1 51913746 51913746 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 51913746 51913746 G A SNP EPS15 ENST00000371733 human ensembl 74_37 -1 known missense c.623 p.A208V 1.000 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 tier1 - - 100 0 0.00 62 4 6.06 ERBB4 0 genome.wustl.edu 37 2 212488710 212488710 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 212488710 212488710 C A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2139 p.L713F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 85 0 0.00 45 15 25.00 ERI3 0 genome.wustl.edu 37 1 44820595 44820595 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 44820595 44820595 C A SNP ERI3 ENST00000372257 human ensembl 74_37 -1 known missense c.104 p.W35L 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC ENSG00000117419 tier1 - - 31 0 0.00 18 6 25.00 ERN1 0 genome.wustl.edu 37 17 62131646 62131646 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 62131646 62131646 G T SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known nonsense c.1917 p.Y639* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 36 0 0.00 26 4 13.33 ETHE1 0 genome.wustl.edu 37 19 44015664 44015664 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 44015664 44015664 G T SNP ETHE1 ENST00000292147 human ensembl 74_37 -1 known missense c.430 p.L144M 0.979 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC ENSG00000105755 tier1 - - 60 0 0.00 50 4 7.41 EXD3 0 genome.wustl.edu 37 9 140201422 140201422 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 140201422 140201422 G T SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.2611 p.P871T 0.000 NULL pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 tier1 - - 65 0 0.00 24 19 44.19 FAM171A1 0 genome.wustl.edu 37 10 15256581 15256581 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 15256581 15256581 G A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.1006 p.R336C 0.997 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 tier1 - - 46 0 0.00 16 7 30.43 FAM47C 0 genome.wustl.edu 37 X 37027002 37027002 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 37027002 37027002 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known silent c.519 p.D173 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 58 0 0.00 24 16 40.00 FAM47C 0 genome.wustl.edu 37 X 37028719 37028719 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 37028719 37028719 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.2236 p.R746W 0.005 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 rs199727942 - 113 0 0.00 92 7 7.07 FAM69A 0 genome.wustl.edu 37 1 93316498 93316498 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 93316498 93316498 C A SNP FAM69A ENST00000370310 human ensembl 74_37 -1 known missense c.204 p.K68N 1.000 NULL pfam_FAM69_kinase_dom - no_errors FAM69A HGNC ENSG00000154511 tier1 - - 55 0 0.00 22 10 31.25 FAM71B 0 genome.wustl.edu 37 5 156590082 156590082 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 156590082 156590082 G T SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known silent c.1194 p.L398 0.076 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 tier1 - - 50 0 0.00 25 12 32.43 FBN1 0 genome.wustl.edu 37 15 48717990 48717990 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 48717990 48717990 G T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.7276 p.H2426N 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 76 0 0.00 30 2 6.06 FCGBP 0 genome.wustl.edu 37 19 40398361 40398361 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 40398361 40398361 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.6606 p.A2202 0.427 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 138 0 0.00 159 14 8.09 FGL2 0 genome.wustl.edu 37 7 76826238 76826238 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 76826238 76826238 G T SNP FGL2 ENST00000248598 human ensembl 74_37 -1 known silent c.678 p.T226 0.994 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL2 HGNC ENSG00000127951 27 0 0.00 15 12 44.44 FILIP1L 0 genome.wustl.edu 37 3 99568551 99568551 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 99568551 99568551 C A SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known nonsense c.1969 p.E657* 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 tier1 - - 86 0 0.00 43 23 34.85 FLG 0 genome.wustl.edu 37 1 152284954 152284954 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 152284954 152284954 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.2408 p.S803Y 0.000 prints_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 190 0 0.00 90 43 32.09 FOXM1 0 genome.wustl.edu 37 12 2967850 2967850 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 2967850 2967850 C A SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.2360 p.G787V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 tier1 - - 69 0 0.00 30 23 43.40 GAA 0 genome.wustl.edu 37 17 78090818 78090818 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 78090818 78090818 G T SNP GAA ENST00000302262 human ensembl 74_37 +1 known silent c.2241 p.G747 0.007 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 tier1 - - 50 0 0.00 39 18 31.58 GAD1 0 genome.wustl.edu 37 2 171702547 171702547 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 171702547 171702547 G T SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.976 p.A326S 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 tier1 - - 47 0 0.00 35 18 33.96 GAL3ST4 0 genome.wustl.edu 37 7 99757845 99757845 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 99757845 99757845 C A SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known silent c.1167 p.L389 0.997 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 tier1 - - 41 0 0.00 44 17 27.87 GAS2L2 0 genome.wustl.edu 37 17 34072962 34072962 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 34072962 34072962 G T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known missense c.1554 p.S518R 0.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 tier1 - - 67 0 0.00 49 5 9.26 GIMAP7 0 genome.wustl.edu 37 7 150217465 150217465 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 150217465 150217465 G T SNP GIMAP7 ENST00000313543 human ensembl 74_37 +1 known nonsense c.403 p.E135* 0.972 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP7 HGNC ENSG00000179144 tier1 - - 40 0 0.00 36 13 26.53 GMPS 0 genome.wustl.edu 37 3 155611407 155611407 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 155611407 155611407 G A SNP GMPS ENST00000496455 human ensembl 74_37 +1 known missense c.128 p.R43Q 1.000 pfam_GATASE,tigrfam_GMP_synth_N pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 tier1 - - 58 0 0.00 44 11 20.00 GNG2 0 genome.wustl.edu 37 14 52417395 52417395 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 52417395 52417395 C T SNP GNG2 ENST00000557376 human ensembl 74_37 +1 putative missense c.116 p.P39L 0.843 superfamily_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG2 HGNC ENSG00000186469 tier1 - - 45 0 0.00 18 4 18.18 GPR161 0 genome.wustl.edu 37 1 168066341 168066341 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 168066341 168066341 G A SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known silent c.564 p.S188 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 tier1 - - 30 0 0.00 22 5 18.52 GPR17 0 genome.wustl.edu 37 2 128408921 128408921 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 128408921 128408921 G A SNP GPR17 ENST00000272644 human ensembl 74_37 +1 known silent c.696 p.P232 0.005 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_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 tier1 - - 56 0 0.00 49 13 20.97 GPR174 0 genome.wustl.edu 37 X 78426729 78426729 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 78426729 78426729 G T SNP GPR174 ENST00000276077 human ensembl 74_37 +1 known missense c.225 p.R75S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR174 HGNC ENSG00000147138 tier1 - - 20 0 0.00 20 15 42.86 GPR39 0 genome.wustl.edu 37 2 133403872 133403872 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 133403872 133403872 G T SNP GPR39 ENST00000470071 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors GPR39 HGNC ENSG00000183840 tier1 - - 24 0 0.00 19 7 26.92 GPR56 0 genome.wustl.edu 37 16 57691325 57691325 + Missense_Mutation SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 57691325 57691325 T C SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.1208 p.L403P 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 tier1 - - 71 0 0.00 44 17 27.87 GRID1 0 genome.wustl.edu 37 10 87484364 87484364 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 87484364 87484364 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1603 p.R535W 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 16 0 0.00 15 2 11.76 H1FOO 0 genome.wustl.edu 37 3 129268029 129268029 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 129268029 129268029 C A SNP H1FOO ENST00000324382 human ensembl 74_37 +1 known silent c.564 p.P188 0.010 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors H1FOO HGNC ENSG00000178804 tier1 - - 51 0 0.00 30 10 25.00 HEPH 0 genome.wustl.edu 37 X 65420509 65420510 + Frame_Shift_Del DEL TG TG - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 65420509 65420510 TG - DEL HEPH ENST00000519389 human ensembl 74_37 +1 known frame_shift_del c.2154_2155 p.V719fs 0.146:0.142 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 66 0 0.00 19 22 53.66 HIP1R 0 genome.wustl.edu 37 12 123341034 123341034 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 123341034 123341034 C T SNP HIP1R ENST00000253083 human ensembl 74_37 +1 known missense c.1457 p.A486V 0.989 NULL pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 tier1 - - 51 0 0.00 23 22 48.89 HMCN1 0 genome.wustl.edu 37 1 186099753 186099753 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 186099753 186099753 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13154 p.R4385I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 39 0 0.00 20 8 28.57 HMGN2 0 genome.wustl.edu 37 1 26799755 26799755 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 26799755 26799755 C T SNP HMGN2 ENST00000466194 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HMGN2 HGNC ENSG00000198830 tier1 - - 12 0 0.00 3 4 57.14 HNRNPUL1 0 genome.wustl.edu 37 19 41812357 41812357 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 41812357 41812357 G T SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.2458 p.A820S 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 tier1 - - 31 0 0.00 20 4 16.67 HSD17B1 0 genome.wustl.edu 37 17 40706597 40706597 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 40706597 40706597 G A SNP HSD17B1 ENST00000585807 human ensembl 74_37 +1 known silent c.714 p.A238 0.000 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 ENSG00000108786 tier1 - - 39 0 0.00 36 13 26.53 IGF1R 0 genome.wustl.edu 37 15 99250814 99250814 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 99250814 99250814 C T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.118 p.R40C 1.000 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 tier1 - - 52 0 0.00 28 7 20.00 IGSF1 0 genome.wustl.edu 37 X 130416537 130416537 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 130416537 130416537 G T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known nonsense c.1127 p.S376* 0.871 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 tier1 - - 38 0 0.00 17 35 67.31 IGSF3 0 genome.wustl.edu 37 1 117156778 117156778 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 117156778 117156778 C A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.441 p.Q147H 0.988 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 40 0 0.00 17 18 51.43 ILF3 0 genome.wustl.edu 37 19 10794640 10794640 + Missense_Mutation SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 10794640 10794640 G C SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.2065 p.G689R 1.000 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 tier1 - - 61 0 0.00 42 6 12.50 ILVBL 0 genome.wustl.edu 37 19 15226966 15226966 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 15226966 15226966 G A SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known missense c.1468 p.P490S 1.000 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 tier1 - - 37 0 0.00 18 10 35.71 INTS1 0 genome.wustl.edu 37 7 1517247 1517247 + Missense_Mutation SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 1517247 1517247 T C SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.5474 p.D1825G 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 18 0 0.00 7 7 50.00 INTS2 0 genome.wustl.edu 37 17 59958388 59958388 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 59958388 59958388 G T SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.2258 p.S753Y 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 tier1 - - 46 0 0.00 15 7 31.82 IQSEC1 0 genome.wustl.edu 37 3 12978085 12978085 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 12978085 12978085 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.473 p.R158H 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 tier1 - - 46 0 0.00 28 13 31.71 KAZN 0 genome.wustl.edu 37 1 15287347 15287347 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 15287347 15287347 G T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known missense c.394 p.A132S 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 tier1 - - 23 0 0.00 12 9 42.86 KCND2 0 genome.wustl.edu 37 7 119915538 119915538 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 119915538 119915538 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.852 p.D284 0.991 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 75 0 0.00 45 14 23.73 KCNH1 0 genome.wustl.edu 37 1 211276912 211276912 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 211276912 211276912 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.236 p.T79M 1.000 pfam_PAS_fold,superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 65 0 0.00 53 3 5.36 KCNJ5 0 genome.wustl.edu 37 11 128781331 128781331 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 128781331 128781331 G T SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known nonsense c.163 p.E55* 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 tier1 - - 73 0 0.00 71 14 16.47 KCNJ6 0 genome.wustl.edu 37 21 39086633 39086633 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 21 39086633 39086633 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.827 p.P276L 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 tier1 - - 84 0 0.00 44 13 22.81 KCNJ8 0 genome.wustl.edu 37 12 21919175 21919175 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 21919175 21919175 G T SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.757 p.P253T 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 tier1 - - 75 0 0.00 41 24 36.92 KCNMA1 0 genome.wustl.edu 37 10 78637539 78637539 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 78637539 78637539 G T SNP KCNMA1 ENST00000404771 human ensembl 74_37 -1 putative missense c.3825 p.S1275R 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 116 0 0.00 68 4 5.56 KCNN3 0 genome.wustl.edu 37 1 154794592 154794592 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 154794592 154794592 G T SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel silent c.1002 p.I334 1.000 pfam_K_chnl_Ca-activ_SK pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 tier1 - - 61 0 0.00 36 8 18.18 KCNS3 0 genome.wustl.edu 37 2 18112842 18112842 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 18112842 18112842 C A SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known silent c.567 p.I189 1.000 prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 tier1 - - 40 0 0.00 38 14 26.92 KDM6A 0 genome.wustl.edu 37 X 44949973 44949973 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 44949973 44949973 C A SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.3763 p.Q1255K 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 - - 40 0 0.00 43 4 8.51 KIAA1324 0 genome.wustl.edu 37 1 109745764 109745764 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 109745764 109745764 G T SNP KIAA1324 ENST00000369938 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors KIAA1324 HGNC ENSG00000116299 tier1 - - 39 0 0.00 18 4 18.18 KIAA1755 0 genome.wustl.edu 37 20 36841560 36841560 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 20 36841560 36841560 G T SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.3487 p.P1163T 0.090 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 88 0 0.00 46 24 33.80 KIF1C 0 genome.wustl.edu 37 17 4926854 4926854 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 4926854 4926854 G A SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.2720 p.R907H 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 tier1 - - 45 0 0.00 11 11 50.00 KIF20A 0 genome.wustl.edu 37 5 137522065 137522065 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 137522065 137522065 G T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.2300 p.G767V 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 tier1 - - 41 0 0.00 33 5 13.16 KIF5A 0 genome.wustl.edu 37 12 57963919 57963919 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 57963919 57963919 C T SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.1267 p.R423C 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 tier1 rs140917012 - 32 0 0.00 6 4 40.00 KIF5A 0 genome.wustl.edu 37 12 57976385 57976385 + Missense_Mutation SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 57976385 57976385 G C SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.2993 p.G998A 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 tier1 - - 65 0 0.00 36 10 21.28 KLF3 0 genome.wustl.edu 37 4 38690448 38690448 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 38690448 38690448 C A SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known silent c.300 p.S100 0.854 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 46 0 0.00 50 3 5.66 KLHL17 0 genome.wustl.edu 37 1 897819 897819 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 897819 897819 G T SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known missense c.796 p.D266Y 0.997 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 tier1 - - 49 0 0.00 18 10 35.71 KLK1 0 genome.wustl.edu 37 19 51322531 51322531 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 51322531 51322531 G A SNP KLK1 ENST00000301420 human ensembl 74_37 -1 known silent c.708 p.G236 0.010 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK1 HGNC ENSG00000167748 tier1 - - 59 0 0.00 35 22 38.60 KLRAP1 0 genome.wustl.edu 37 12 10742127 10742127 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 10742127 10742127 C T SNP KLRAP1 ENST00000510134 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KLRAP1 HGNC ENSG00000256667 tier1 - - 44 0 0.00 23 9 28.12 KNDC1 0 genome.wustl.edu 37 10 135025060 135025060 + Missense_Mutation SNP T T A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 135025060 135025060 T A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.4049 p.F1350Y 0.324 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 39 0 0.00 33 6 15.38 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,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 KRAS HGNC ENSG00000133703 tier1 rs121913529 - 37 0 0.00 28 11 28.21 KRT39 0 genome.wustl.edu 37 17 39115025 39115025 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 39115025 39115025 G T SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known missense c.1304 p.A435D 0.003 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 tier1 - - 75 0 0.00 56 4 6.67 KRTAP1-3 0 genome.wustl.edu 37 17 39190928 39190928 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 39190928 39190928 C A SNP KRTAP1-3 ENST00000344363 human ensembl 74_37 -1 known missense c.146 p.S49I 0.758 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-3 HGNC ENSG00000221880 tier1 - - 167 0 0.00 105 30 22.06 KRTAP10-10 0 genome.wustl.edu 37 21 46057784 46057784 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 21 46057784 46057784 C A SNP KRTAP10-10 ENST00000380095 human ensembl 74_37 +1 known silent c.450 p.V150 0.838 NULL NULL - no_errors KRTAP10-10 HGNC ENSG00000221859 tier1 - - 119 0 0.00 72 17 18.89 LAMA1 0 genome.wustl.edu 37 18 6965422 6965422 + Silent SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 18 6965422 6965422 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.7060 p.L2354 0.977 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 49 0 0.00 14 13 48.15 LDLRAD4 0 genome.wustl.edu 37 18 13438311 13438311 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 18 13438311 13438311 G T SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known missense c.109 p.D37Y 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 31 0 0.00 16 3 15.79 LEPREL1 0 genome.wustl.edu 37 3 189688652 189688652 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 189688652 189688652 C A SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known nonsense c.1846 p.E616* 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 tier1 - - 28 0 0.00 13 9 40.91 LGR5 0 genome.wustl.edu 37 12 71978313 71978313 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 71978313 71978313 G T SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.2523 p.W841C 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 tier1 - - 68 0 0.00 34 16 32.00 LHCGR 0 genome.wustl.edu 37 2 48915873 48915873 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 48915873 48915873 C A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1063 p.D355Y 1.000 prints_Gphrmn_rcpt_fam pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 37 0 0.00 28 11 28.21 LINC00094 0 genome.wustl.edu 37 9 136892100 136892100 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 136892100 136892100 G T SNP LINC00094 ENST00000430633 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors LINC00094 HGNC ENSG00000235106 38 0 0.00 14 4 22.22 LINC00283 0 genome.wustl.edu 37 13 103396504 103396504 + RNA SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 13 103396504 103396504 T C SNP LINC00283 ENST00000430111 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors LINC00283 HGNC ENSG00000231633 tier1 - - 113 0 0.00 51 7 12.07 LOC100127967 0 genome.wustl.edu 37 12 53007439 53007439 + RNA SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 53007439 53007439 C A SNP LOC100127967 ENST00000549180 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 tier1 - - 50 0 0.00 24 6 20.00 LOC100134368 0 genome.wustl.edu 37 16 436727 436728 + RNA DEL AA AA - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 436727 436728 AA - DEL LOC100134368 ENST00000457760 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.019 - - - no_errors Z97634.3 Clone_based_vega_gene ENSG00000236829 tier1 13 0 0.00 4 2 33.33 LOC100505588 0 genome.wustl.edu 37 9 126770359 126770359 + RNA SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 126770359 126770359 C A SNP LOC100505588 ENST00000453529 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-85O21.2 Clone_based_vega_gene ENSG00000236668 tier1 - - 37 0 0.00 16 10 38.46 LOC100505635 0 genome.wustl.edu 37 6 39867686 39867686 + RNA SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 39867686 39867686 C A SNP LOC100505635 ENST00000437947 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-61I13.3 Clone_based_vega_gene ENSG00000235033 tier1 - - 15 0 0.00 10 4 28.57 LOC100506060 0 genome.wustl.edu 37 16 70268081 70268081 + RNA SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 70268081 70268081 G A SNP LOC100506060 ENST00000568855 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 tier1 - - 152 0 0.00 85 7 7.61 LOC100652824 0 genome.wustl.edu 37 2 202967673 202967673 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 202967673 202967673 C A SNP LOC100652824 ENST00000541917 human ensembl 74_37 +1 known missense c.1160 p.P387Q 0.003 NULL NULL - no_errors AC079354.1 Clone_based_vega_gene ENSG00000182329 tier1 - - 70 0 0.00 34 11 24.44 LOC101927345 0 genome.wustl.edu 37 1 143399709 143399710 + RNA INS - - T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 143399709 143399710 0 T INS LOC101927345 ENST00000431700 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.006 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 9 0 0.00 4 3 42.86 LOC101929329 0 genome.wustl.edu 37 20 9495488 9495488 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 20 9495488 9495488 G T SNP LOC101929329 ENST00000443469 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1119D9.4 Clone_based_vega_gene ENSG00000225988 tier1 - - 54 0 0.00 26 9 25.71 LPHN2 0 genome.wustl.edu 37 1 82409360 82409360 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 82409360 82409360 G T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.1105 p.D369Y 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 54 0 0.00 24 8 25.00 LRBA 0 genome.wustl.edu 37 4 151502535 151502535 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 151502535 151502535 G T SNP LRBA ENST00000503716 human ensembl 74_37 -1 known rna NULL NULL 0.276 - - - no_errors LRBA HGNC ENSG00000198589 tier1 - - 59 0 0.00 41 9 18.00 LRRC32 0 genome.wustl.edu 37 11 76372027 76372027 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 76372027 76372027 G A SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.610 p.L204F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 35 0 0.00 44 13 22.81 LRRC4B 0 genome.wustl.edu 37 19 51022489 51022489 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 51022489 51022489 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.481 p.R161W 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 tier1 - - 74 0 0.00 89 24 21.05 LRRK2 0 genome.wustl.edu 37 12 40714949 40714949 + Missense_Mutation SNP A A C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 40714949 40714949 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5129 p.N1710T 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 81 0 0.00 31 20 39.22 LRSAM1 0 genome.wustl.edu 37 9 130230083 130230083 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 130230083 130230083 C T SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known missense c.593 p.A198V 0.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 tier1 - - 31 0 0.00 22 11 33.33 LSM14B 0 genome.wustl.edu 37 20 60708434 60708434 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 20 60708434 60708434 C T SNP LSM14B ENST00000253001 human ensembl 74_37 +1 known missense c.1075 p.R359W 0.949 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14B HGNC ENSG00000149657 tier1 - - 51 0 0.00 33 11 25.00 MAB21L1 0 genome.wustl.edu 37 13 36049408 36049408 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 13 36049408 36049408 C T SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.868 p.D290N 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 tier1 - - 66 0 0.00 30 5 14.29 MAB21L3 0 genome.wustl.edu 37 1 116675848 116675848 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 116675848 116675848 G T SNP MAB21L3 ENST00000369500 human ensembl 74_37 +1 known missense c.951 p.K317N 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L3 HGNC ENSG00000173212 tier1 - - 39 0 0.00 22 9 29.03 MAGEL2 0 genome.wustl.edu 37 15 23889871 23889871 + Nonsense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 23889871 23889871 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known nonsense c.1210 p.Q404* 0.117 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 41 0 0.00 10 8 44.44 MAGI3 0 genome.wustl.edu 37 1 114226111 114226111 + Silent SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 114226111 114226111 A G SNP MAGI3 ENST00000307546 human ensembl 74_37 +1 novel silent c.3921 p.K1307 0.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 30 0 0.00 11 2 15.38 MAP4K3 0 genome.wustl.edu 37 2 39477812 39477812 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 39477812 39477812 G A SNP MAP4K3 ENST00000263881 human ensembl 74_37 -1 known missense c.2632 p.P878S 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K3 HGNC ENSG00000011566 tier1 - - 52 0 0.00 31 9 22.50 MAPK8IP1 0 genome.wustl.edu 37 11 45924519 45924519 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 45924519 45924519 G A SNP MAPK8IP1 ENST00000241014 human ensembl 74_37 +1 known missense c.1201 p.G401R 0.131 superfamily_SH3_domain pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 tier1 - - 46 0 0.00 23 5 17.86 MARC2 0 genome.wustl.edu 37 1 220957426 220957426 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 220957426 220957426 G T SNP MARC2 ENST00000472447 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MARC2 HGNC ENSG00000117791 tier1 - - 25 0 0.00 13 4 23.53 MARK2 0 genome.wustl.edu 37 11 63672373 63672373 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 63672373 63672373 C A SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.1792 p.H598N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 tier1 - - 51 0 0.00 33 10 23.26 MASP1 0 genome.wustl.edu 37 3 186943175 186943175 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 186943175 186943175 C A SNP MASP1 ENST00000337774 human ensembl 74_37 -1 known nonsense c.1678 p.E560* 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP1 HGNC ENSG00000127241 tier1 - - 76 0 0.00 56 45 44.55 MCF2L2 0 genome.wustl.edu 37 3 183097171 183097171 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 183097171 183097171 G T SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known silent c.189 p.I63 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 tier1 - - 55 0 0.00 38 10 20.83 MDN1 0 genome.wustl.edu 37 6 90362717 90362717 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 90362717 90362717 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.15819 p.I5273 0.320 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 160 0 0.00 69 34 33.01 MED12 0 genome.wustl.edu 37 X 70346289 70346289 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 70346289 70346289 G T SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.2640 p.M880I 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 tier1 - - 38 0 0.00 49 4 7.55 MET 0 genome.wustl.edu 37 7 116339373 116339373 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 116339373 116339373 C A SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.235 p.Q79K 0.990 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 31 0 0.00 36 29 44.62 METTL10 0 genome.wustl.edu 37 10 126454174 126454174 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 126454174 126454174 C A SNP METTL10 ENST00000368836 human ensembl 74_37 -1 known nonsense c.403 p.E135* 0.996 pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase - no_errors METTL10 HGNC ENSG00000203791 tier1 - - 38 0 0.00 17 10 37.04 MFI2 0 genome.wustl.edu 37 3 196748333 196748333 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 196748333 196748333 C T SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known silent c.654 p.A218 0.198 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 tier1 - - 52 0 0.00 32 14 30.43 MFSD10 0 genome.wustl.edu 37 4 2933310 2933310 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 2933310 2933310 G T SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.995 p.P332H 0.987 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 tier1 - - 67 0 0.00 18 6 25.00 MFSD11 0 genome.wustl.edu 37 17 74772611 74772611 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 74772611 74772611 C A SNP MFSD11 ENST00000336509 human ensembl 74_37 +1 known missense c.1173 p.F391L 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 tier1 - - 90 0 0.00 45 12 21.05 MICAL1 0 genome.wustl.edu 37 6 109765475 109765475 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 109765475 109765475 G A SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known silent c.3180 p.V1060 1.000 pfam_DUF3585 pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 tier1 - - 55 0 0.00 36 11 23.40 MICAL2 0 genome.wustl.edu 37 11 12261023 12261024 + Frame_Shift_Ins INS - - TT TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 12261023 12261024 - TT INS MICAL2 ENST00000256194 human ensembl 74_37 +1 known frame_shift_ins c.2105_2106 p.E702fs 0.609:0.116 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 tier1 71 0 0.00 32 10 23.81 MLF1 0 genome.wustl.edu 37 3 158289110 158289110 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 158289110 158289110 C T SNP MLF1 ENST00000355893 human ensembl 74_37 +1 known silent c.21 p.S7 0.998 NULL pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC ENSG00000178053 tier1 - - 55 0 0.00 52 4 7.14 MMP2 0 genome.wustl.edu 37 16 55513424 55513424 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 55513424 55513424 G A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known silent c.33 p.T11 0.000 NULL pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 tier1 - - 12 0 0.00 3 6 66.67 MMS22L 0 genome.wustl.edu 37 6 97711246 97711246 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 97711246 97711246 G T SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.907 p.L303I 0.997 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 tier1 - - 27 0 0.00 11 4 26.67 MRPL3 0 genome.wustl.edu 37 3 131188618 131188618 + Splice_Site SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 131188618 131188618 C A SNP MRPL3 ENST00000264995 human ensembl 74_37 -1 known splice_site c.739-1 e8-1 1.000 - - - no_errors MRPL3 HGNC ENSG00000114686 tier1 - - 68 0 0.00 51 6 10.53 MRS2 0 genome.wustl.edu 37 6 24412553 24412553 + Missense_Mutation SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 24412553 24412553 G C SNP MRS2 ENST00000443868 human ensembl 74_37 +1 known missense c.527 p.G176A 1.000 NULL NULL - no_errors MRS2 HGNC ENSG00000124532 tier1 - - 63 0 0.00 31 21 40.38 MSN 0 genome.wustl.edu 37 X 64949488 64949488 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 64949488 64949488 G A SNP MSN ENST00000360270 human ensembl 74_37 +1 known silent c.381 p.S127 0.824 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 tier1 - - 26 0 0.00 4 15 78.95 MT-CO2 0 genome.wustl.edu 37 MT 8027 8027 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 MT 8027 8027 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.442 p.A148T NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 rs1116904 - 471 0 0.00 13 80 86.02 MTMR10 0 genome.wustl.edu 37 15 31253222 31253222 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 31253222 31253222 C T SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.620 p.G207D 0.005 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 tier1 - - 57 0 0.00 20 11 35.48 MTMR11 0 genome.wustl.edu 37 1 149907008 149907008 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 149907008 149907008 G T SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known silent c.339 p.S113 0.371 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 48 0 0.00 35 2 5.41 MUC19 0 genome.wustl.edu 37 12 40919118 40919118 + RNA SNP A A T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 40919118 40919118 A T SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 51 0 0.00 36 17 32.08 MUC19 0 genome.wustl.edu 37 12 40919206 40919206 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 40919206 40919206 G T SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 129 0 0.00 67 31 31.63 MXRA5 0 genome.wustl.edu 37 X 3228851 3228851 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 3228851 3228851 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.7393 p.D2465N 0.995 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 32 0 0.00 10 17 62.96 MYCBPAP 0 genome.wustl.edu 37 17 48598572 48598572 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 48598572 48598572 G T SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.1147 p.D383Y 0.802 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 tier1 - - 50 0 0.00 28 6 17.65 MYH1 0 genome.wustl.edu 37 17 10402365 10402365 + Nonsense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 10402365 10402365 G A SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known nonsense c.3910 p.Q1304* 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 69 0 0.00 41 4 8.89 MYH9 0 genome.wustl.edu 37 22 36700136 36700136 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 36700136 36700136 G T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.2295 p.A765 0.004 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 46 0 0.00 16 6 27.27 MYO10 0 genome.wustl.edu 37 5 16704730 16704730 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 16704730 16704730 G T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.2234 p.A745E 0.999 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 50 0 0.00 32 2 5.88 MYO3A 0 genome.wustl.edu 37 10 26315325 26315325 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 26315325 26315325 G T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known nonsense c.817 p.E273* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 56 0 0.00 27 10 27.03 NAIF1 0 genome.wustl.edu 37 9 130829111 130829111 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 130829111 130829111 C A SNP NAIF1 ENST00000373078 human ensembl 74_37 -1 known silent c.270 p.V90 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 tier1 - - 55 0 0.00 33 13 28.26 NAV2 0 genome.wustl.edu 37 11 19954795 19954795 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 19954795 19954795 C A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.1074 p.S358R 0.176 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 66 0 0.00 37 12 24.49 NAV2 0 genome.wustl.edu 37 11 20072880 20072880 + Splice_Site SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 20072880 20072880 G T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known splice_site c.4550+1 e18+1 1.000 - - - no_errors NAV2 HGNC ENSG00000166833 95 0 0.00 75 4 5.06 NCOR2 0 genome.wustl.edu 37 12 124835202 124835202 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 124835202 124835202 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.3796 p.R1266W 0.882 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 86 0 0.00 61 12 16.44 NEB 0 genome.wustl.edu 37 2 152409288 152409288 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 152409288 152409288 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.19734 p.I6578 0.998 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 75 0 0.00 26 14 35.00 NECAB1 0 genome.wustl.edu 37 8 91937792 91937792 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 91937792 91937792 C T SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known missense c.524 p.S175L 0.975 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 tier1 - - 75 0 0.00 65 4 5.80 NID1 0 genome.wustl.edu 37 1 236154248 236154248 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 236154248 236154248 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2866 p.R956C 0.988 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 65 0 0.00 49 3 5.77 NINJ1 0 genome.wustl.edu 37 9 95888728 95888728 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 95888728 95888728 G T SNP NINJ1 ENST00000375446 human ensembl 74_37 -1 known missense c.268 p.L90M 0.969 pfam_Ninjurin pfam_Ninjurin - no_errors NINJ1 HGNC ENSG00000131669 49 0 0.00 51 3 5.56 NLGN3 0 genome.wustl.edu 37 X 70390928 70390928 + RNA DEL T T - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 70390928 70390928 T - DEL NLGN3 ENST00000476589 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors NLGN3 HGNC ENSG00000196338 tier1 44 0 0.00 36 5 12.20 NLRP1 0 genome.wustl.edu 37 17 5404294 5404294 + RNA SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 5404294 5404294 G A SNP NLRP1 ENST00000568641 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NLRP1 HGNC ENSG00000091592 tier1 - - 41 0 0.00 12 8 40.00 NMB 0 genome.wustl.edu 37 15 85200480 85200480 + Missense_Mutation SNP T T A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 85200480 85200480 T A SNP NMB ENST00000394588 human ensembl 74_37 -1 known missense c.257 p.H86L 0.982 NULL pfam_Bombesin - no_errors NMB HGNC ENSG00000197696 tier1 - - 50 0 0.00 35 5 12.50 NOX4 0 genome.wustl.edu 37 11 89177378 89177378 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 89177378 89177378 C T SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known silent c.435 p.L145 1.000 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 tier1 - - 31 0 0.00 11 3 21.43 NPAP1 0 genome.wustl.edu 37 15 24923939 24923939 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 24923939 24923939 C A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.2925 p.G975 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 65 0 0.00 34 15 30.61 NPHP4 0 genome.wustl.edu 37 1 5935119 5935119 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 5935119 5935119 C A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.2859 p.Q953H 1.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 tier1 - - 41 0 0.00 26 17 39.53 NRG3 0 genome.wustl.edu 37 10 84733598 84733598 + Missense_Mutation SNP A A C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 84733598 84733598 A C SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known missense c.1339 p.S447R 1.000 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 tier1 - - 48 0 0.00 31 9 22.50 NUDCD3 0 genome.wustl.edu 37 7 44530130 44530130 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 44530130 44530130 G T SNP NUDCD3 ENST00000355451 human ensembl 74_37 -1 known missense c.70 p.Q24K 1.000 NULL pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors NUDCD3 HGNC ENSG00000015676 tier1 - - 54 0 0.00 71 16 18.39 OBSCN 0 genome.wustl.edu 37 1 228467014 228467014 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 228467014 228467014 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.7265 p.G2422V 0.735 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 108 0 0.00 69 15 17.86 OBSCN 0 genome.wustl.edu 37 1 228474500 228474500 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 228474500 228474500 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.9304 p.L3102F 0.993 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 26 0 0.00 17 8 32.00 OLFML2B 0 genome.wustl.edu 37 1 161953836 161953836 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 161953836 161953836 C A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1882 p.G628C 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 41 0 0.00 17 15 46.88 OMG 0 genome.wustl.edu 37 17 29622474 29622474 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 29622474 29622474 C T SNP OMG ENST00000247271 human ensembl 74_37 -1 known silent c.876 p.L292 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMG HGNC ENSG00000126861 tier1 - - 84 0 0.00 52 24 31.58 OPCML 0 genome.wustl.edu 37 11 132812977 132812977 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 132812977 132812977 C T SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.11 p.C4Y 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 tier1 - - 141 0 0.00 95 47 33.10 OR11G2 0 genome.wustl.edu 37 14 20666414 20666414 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 20666414 20666414 G T SNP OR11G2 ENST00000357366 human ensembl 74_37 +1 known missense c.920 p.G307V 0.321 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11G2 HGNC ENSG00000196832 50 0 0.00 30 2 6.25 OR11L1 0 genome.wustl.edu 37 1 248005050 248005050 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 248005050 248005050 C A SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.149 p.S50I 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 53 0 0.00 16 6 27.27 OR1G1 0 genome.wustl.edu 37 17 3030174 3030174 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 3030174 3030174 G T SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known silent c.672 p.T224 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 tier1 - - 48 0 0.00 14 7 33.33 OR2G2 0 genome.wustl.edu 37 1 247752501 247752501 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 247752501 247752501 C A SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known missense c.840 p.F280L 0.863 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 tier1 - - 147 0 0.00 47 32 40.51 OR2M2 0 genome.wustl.edu 37 1 248344020 248344020 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 248344020 248344020 C A SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known missense c.733 p.L245I 0.935 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 tier1 - - 171 0 0.00 113 27 19.29 OR4B1 0 genome.wustl.edu 37 11 48239263 48239263 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 48239263 48239263 G T SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known missense c.902 p.S301I 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4B1 HGNC ENSG00000175619 tier1 - - 47 0 0.00 48 6 11.11 OR4Q3 0 genome.wustl.edu 37 14 20216180 20216180 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 20216180 20216180 G T SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known silent c.594 p.V198 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 tier1 - - 252 0 0.00 144 28 16.28 OR51G1 0 genome.wustl.edu 37 11 4944765 4944765 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 4944765 4944765 G T SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.805 p.H269N 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 tier1 - - 69 0 0.00 50 10 16.67 OR52D1 0 genome.wustl.edu 37 11 5510671 5510671 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 5510671 5510671 C A SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known silent c.735 p.G245 0.715 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 tier1 - - 80 0 0.00 44 21 32.31 OR5AR1 0 genome.wustl.edu 37 11 56431989 56431989 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 56431989 56431989 G T SNP OR5AR1 ENST00000302969 human ensembl 74_37 +1 known silent c.828 p.V276 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AR1 HGNC ENSG00000172459 tier1 - - 47 0 0.00 25 12 32.43 OR5J2 0 genome.wustl.edu 37 11 55944157 55944157 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 55944157 55944157 G T SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known nonsense c.64 p.E22* 0.054 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 tier1 - - 97 0 0.00 59 17 22.37 OR6K6 0 genome.wustl.edu 37 1 158724756 158724756 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 158724756 158724756 G T SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.151 p.G51C 0.388 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 tier1 - - 69 0 0.00 43 10 18.87 OVCH2 0 genome.wustl.edu 37 11 7718030 7718030 + Silent SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 7718030 7718030 A G SNP OVCH2 ENST00000454689 human ensembl 74_37 -1 known silent c.1123 p.L375 0.995 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH2 HGNC ENSG00000183378 tier1 - - 34 0 0.00 20 5 20.00 OXR1 0 genome.wustl.edu 37 8 107718695 107718695 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 107718695 107718695 C A SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known silent c.949 p.R317 0.972 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 42 0 0.00 36 6 14.29 PANK2 0 genome.wustl.edu 37 20 3893116 3893116 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 20 3893116 3893116 G A SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known missense c.1247 p.G416E 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 51 0 0.00 39 4 9.30 PATL1 0 genome.wustl.edu 37 11 59423058 59423058 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 59423058 59423058 G T SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known silent c.969 p.P323 0.966 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 tier1 - - 81 0 0.00 70 19 21.35 PAX1 0 genome.wustl.edu 37 20 21689255 21689255 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 20 21689255 21689255 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.976 p.V326M 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 40 0 0.00 20 14 40.00 PCBP3 0 genome.wustl.edu 37 21 47316264 47316264 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 21 47316264 47316264 G T SNP PCBP3 ENST00000400314 human ensembl 74_37 +1 known silent c.153 p.L51 0.995 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 tier1 - - 72 0 0.00 36 12 25.00 PCDH10 0 genome.wustl.edu 37 4 134072237 134072237 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 134072237 134072237 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.942 p.G314 0.184 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 28 0 0.00 14 6 30.00 PCDH11X 0 genome.wustl.edu 37 X 91873445 91873445 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 91873445 91873445 C A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.3550 p.H1184N 0.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 65 0 0.00 19 63 76.83 PCDHB2 0 genome.wustl.edu 37 5 140474968 140474968 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 140474968 140474968 G T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.594 p.L198 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 - - 54 0 0.00 26 4 13.33 PCDHGB8P 0 genome.wustl.edu 37 5 140807630 140807630 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 140807630 140807630 C T SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHGB8P HGNC ENSG00000248449 tier1 - - 98 0 0.00 62 33 34.74 PCNT 0 genome.wustl.edu 37 21 47850518 47850518 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 21 47850518 47850518 G T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known nonsense c.8011 p.E2671* 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 52 0 0.00 36 4 10.00 PCNXL3 0 genome.wustl.edu 37 11 65404426 65404426 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 65404426 65404426 C A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.6082 p.P2028T 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 31 0 0.00 11 11 50.00 PCYT1B 0 genome.wustl.edu 37 X 24597492 24597492 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 24597492 24597492 C A SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.649 p.A217S 1.000 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 tier1 - - 51 0 0.00 26 38 59.38 PDCD6IP 0 genome.wustl.edu 37 3 33868054 33868054 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 33868054 33868054 C T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known silent c.699 p.Y233 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 tier1 - - 53 0 0.00 33 19 36.54 PDZRN4 0 genome.wustl.edu 37 12 41831755 41831755 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 41831755 41831755 C A SNP PDZRN4 ENST00000539469 human ensembl 74_37 +1 known nonsense c.9 p.C3* 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 80 0 0.00 35 13 27.08 PKHD1 0 genome.wustl.edu 37 6 51777375 51777375 + Splice_Site SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 51777375 51777375 C A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known splice_site c.6122-1 e37-1 1.000 - - - no_errors PKHD1 HGNC ENSG00000170927 49 0 0.00 20 9 31.03 PLCD4 0 genome.wustl.edu 37 2 219500634 219500634 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 219500634 219500634 C T SNP PLCD4 ENST00000417849 human ensembl 74_37 +1 known missense c.2012 p.T671I 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 tier1 - - 36 0 0.00 25 9 26.47 PLXDC1 0 genome.wustl.edu 37 17 37243872 37243872 + Missense_Mutation SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 37243872 37243872 T C SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known missense c.895 p.T299A 1.000 superfamily_Plexin-like_fold pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 tier1 - - 42 0 0.00 33 11 25.00 PODN 0 genome.wustl.edu 37 1 53544109 53544109 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 53544109 53544109 C A SNP PODN ENST00000312553 human ensembl 74_37 +1 known silent c.1071 p.R357 0.987 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors PODN HGNC ENSG00000174348 tier1 - - 68 0 0.00 27 16 37.21 POLE 0 genome.wustl.edu 37 12 133219196 133219196 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 133219196 133219196 C T SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.4848 p.K1616 0.929 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 30 0 0.00 16 15 48.39 PON1 0 genome.wustl.edu 37 7 95024002 95024002 + Missense_Mutation SNP T T G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 95024002 95024002 T G SNP PON1 ENST00000542556 human ensembl 74_37 -1 known missense c.99 p.E33D 0.154 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 tier1 - - 80 0 0.00 39 26 40.00 POTEG 0 genome.wustl.edu 37 14 19563418 19563418 + Missense_Mutation SNP T T G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 19563418 19563418 T G SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.932 p.L311R 0.881 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 tier1 - - 166 0 0.00 128 26 16.88 POU2AF1 0 genome.wustl.edu 37 11 111229619 111229619 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 111229619 111229619 G T SNP POU2AF1 ENST00000393067 human ensembl 74_37 -1 known missense c.41 p.A14D 0.994 pfam_PD-C2-AF1 pfam_PD-C2-AF1 - no_errors POU2AF1 HGNC ENSG00000110777 tier1 - - 26 0 0.00 24 9 27.27 POU6F1 0 genome.wustl.edu 37 12 51598016 51598016 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 51598016 51598016 C T SNP POU6F1 ENST00000546685 human ensembl 74_37 -1 known rna NULL NULL 0.989 - - - no_errors POU6F1 HGNC ENSG00000184271 tier1 - - 25 0 0.00 21 7 25.00 PPL 0 genome.wustl.edu 37 16 4934233 4934233 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 4934233 4934233 G T SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.4423 p.L1475I 0.978 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 tier1 - - 44 0 0.00 23 13 36.11 PPP1R12C 0 genome.wustl.edu 37 19 55606101 55606101 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 55606101 55606101 G A SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known missense c.1520 p.P507L 0.277 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 tier1 rs34972456 - 47 0 0.00 44 17 27.87 PPP1R26 0 genome.wustl.edu 37 9 138377387 138377387 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 138377387 138377387 C T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.1031 p.A344V 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 - - 73 0 0.00 55 21 27.63 PPP1R26 0 genome.wustl.edu 37 9 138378132 138378132 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 138378132 138378132 C A SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known nonsense c.1776 p.C592* 0.780 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 tier1 - - 37 0 0.00 25 7 21.88 PRAMEF2 0 genome.wustl.edu 37 1 12920049 12920049 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 12920049 12920049 C A SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.789 p.F263L 0.037 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 tier1 - - 65 0 0.00 32 14 30.43 PRCP 0 genome.wustl.edu 37 11 82611355 82611355 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 82611355 82611355 G T SNP PRCP ENST00000393399 human ensembl 74_37 -1 known silent c.90 p.G30 0.027 NULL pfam_Peptidase_S28 - no_errors PRCP HGNC ENSG00000137509 tier1 - - 69 0 0.00 40 27 40.30 PRELP 0 genome.wustl.edu 37 1 203452624 203452624 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 203452624 203452624 C A SNP PRELP ENST00000343110 human ensembl 74_37 +1 known silent c.312 p.I104 1.000 pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 tier1 - - 86 0 0.00 35 22 38.60 PRR14L 0 genome.wustl.edu 37 22 32110194 32110194 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 32110194 32110194 C A SNP PRR14L ENST00000397493 human ensembl 74_37 -1 known nonsense c.3631 p.E1211* 0.095 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 tier1 - - 44 0 0.00 34 9 20.93 PRRC2A 0 genome.wustl.edu 37 6 31600164 31600164 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 31600164 31600164 G T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.3714 p.E1238D 0.997 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 tier1 - - 33 0 0.00 10 6 37.50 PRSS12 0 genome.wustl.edu 37 4 119219952 119219952 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 119219952 119219952 G T SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.1773 p.H591Q 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 tier1 - - 99 0 0.00 57 4 6.56 PRTG 0 genome.wustl.edu 37 15 56032809 56032809 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 56032809 56032809 G A SNP PRTG ENST00000389286 human ensembl 74_37 -1 known silent c.168 p.V56 0.470 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 72 0 0.00 32 10 23.81 PSMD12 0 genome.wustl.edu 37 17 65337107 65337107 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 65337107 65337107 C A SNP PSMD12 ENST00000356126 human ensembl 74_37 -1 known missense c.1223 p.R408I 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 tier1 - - 79 0 0.00 52 5 8.62 PSTK 0 genome.wustl.edu 37 10 124742964 124742964 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 124742964 124742964 C A SNP PSTK ENST00000368887 human ensembl 74_37 +1 known missense c.685 p.P229T 0.018 pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk - no_errors PSTK HGNC ENSG00000179988 tier1 - - 45 0 0.00 27 4 12.90 PTK2B 0 genome.wustl.edu 37 8 27308400 27308400 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 27308400 27308400 G T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.2475 p.E825D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 tier1 - - 50 0 0.00 22 15 40.54 PTPN3 0 genome.wustl.edu 37 9 112172566 112172566 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 112172566 112172566 G T SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.1443 p.F481L 0.997 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 tier1 - - 58 0 0.00 31 8 20.51 PTPRN2 0 genome.wustl.edu 37 7 157926523 157926523 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 157926523 157926523 C T SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1471 p.A491T 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 42 0 0.00 36 2 5.26 PWP2 0 genome.wustl.edu 37 21 45528948 45528948 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 21 45528948 45528948 C A SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known silent c.102 p.G34 0.970 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 tier1 - - 45 0 0.00 14 5 26.32 R3HCC1 0 genome.wustl.edu 37 8 23147887 23147887 + Frame_Shift_Del DEL A A - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 23147887 23147887 A - DEL R3HCC1 ENST00000411463 human ensembl 74_37 +1 known frame_shift_del c.877 p.R293fs 0.270 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HCC1 HGNC ENSG00000104679 tier1 43 0 0.00 11 2 15.38 R3HCC1L 0 genome.wustl.edu 37 10 99968528 99968528 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 99968528 99968528 G T SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known missense c.657 p.E219D 0.641 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 91 0 0.00 51 3 5.56 RASGRF2 0 genome.wustl.edu 37 5 80502710 80502710 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 80502710 80502710 G T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.2953 p.D985Y 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 tier1 - - 32 0 0.00 24 4 14.29 RASGRP1 0 genome.wustl.edu 37 15 38852095 38852095 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 38852095 38852095 C A SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known missense c.147 p.M49I 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 tier1 - - 65 0 0.00 32 18 35.29 RASGRP3 0 genome.wustl.edu 37 2 33740275 33740275 + Splice_Site SNP T T A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 33740275 33740275 T A SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known splice_site c.70+2 e1+2 1.000 - - - no_errors RASGRP3 HGNC ENSG00000152689 tier1 - - 80 0 0.00 44 23 33.82 RASGRP3 0 genome.wustl.edu 37 2 33745725 33745725 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 33745725 33745725 C T SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known silent c.342 p.H114 0.327 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 55 0 0.00 37 2 5.13 RBM41 0 genome.wustl.edu 37 X 106310814 106310814 + Silent SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 106310814 106310814 T C SNP RBM41 ENST00000372479 human ensembl 74_37 -1 known silent c.1185 p.Q395 0.015 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM41 HGNC ENSG00000089682 tier1 - - 30 0 0.00 12 20 62.50 RERE 0 genome.wustl.edu 37 1 8585942 8585942 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 8585942 8585942 C T SNP RERE ENST00000507012 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors RERE HGNC ENSG00000142599 tier1 - - 46 0 0.00 25 14 35.90 RFX6 0 genome.wustl.edu 37 6 117250059 117250059 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 117250059 117250059 G T SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.2536 p.D846Y 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 60 0 0.00 34 13 27.66 RIMS1 0 genome.wustl.edu 37 6 72957772 72957772 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 72957772 72957772 C A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.2183 p.S728Y 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 51 0 0.00 31 15 32.61 RLN1 0 genome.wustl.edu 37 9 5335515 5335515 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 5335515 5335515 C A SNP RLN1 ENST00000223862 human ensembl 74_37 -1 known silent c.294 p.L98 0.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN1 HGNC ENSG00000107018 tier1 - - 98 0 0.00 52 15 22.39 RMI2 0 genome.wustl.edu 37 16 11410760 11410760 + RNA DEL A A - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 11410760 11410760 A - DEL RMI2 ENST00000572992 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RMI2 HGNC ENSG00000175643 tier1 51 0 0.00 27 2 6.90 RND1 0 genome.wustl.edu 37 12 49254792 49254792 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 49254792 49254792 G T SNP RND1 ENST00000309739 human ensembl 74_37 -1 known silent c.441 p.I147 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND1 HGNC ENSG00000172602 tier1 - - 34 0 0.00 17 12 41.38 RNPS1 0 genome.wustl.edu 37 16 2314307 2314307 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 2314307 2314307 C A SNP RNPS1 ENST00000301730 human ensembl 74_37 -1 known missense c.97 p.D33Y 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPS1 HGNC ENSG00000205937 tier1 - - 69 0 0.00 16 23 58.97 RPE 0 genome.wustl.edu 37 2 210867476 210867476 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 210867476 210867476 G T SNP RPE ENST00000359429 human ensembl 74_37 +1 known missense c.91 p.A31S 1.000 pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like - no_errors RPE HGNC ENSG00000197713 tier1 - - 36 0 0.00 23 7 23.33 RPL26 0 genome.wustl.edu 37 17 8280943 8280943 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 8280943 8280943 C T SNP RPL26 ENST00000293842 human ensembl 74_37 -1 known missense c.377 p.R126H 1.000 superfamily_Translation_prot_SH3-like pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26 HGNC ENSG00000161970 59 0 0.00 36 2 5.26 RPS6KA5 0 genome.wustl.edu 37 14 91340005 91340005 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 91340005 91340005 C T SNP RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known missense c.2131 p.V711M 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 tier1 - - 38 0 0.00 14 15 51.72 RTTN 0 genome.wustl.edu 37 18 67742586 67742586 + Splice_Site SNP A A T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 18 67742586 67742586 A T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known splice_site c.4564+2 e33+2 1.000 - - - no_errors RTTN HGNC ENSG00000176225 22 0 0.00 18 2 10.00 RYR2 0 genome.wustl.edu 37 1 237666611 237666611 + Nonsense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 237666611 237666611 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known nonsense c.2413 p.R805* 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 45 0 0.00 24 9 27.27 S100A12 0 genome.wustl.edu 37 1 153346380 153346380 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 153346380 153346380 G T SNP S100A12 ENST00000368737 human ensembl 74_37 -1 known missense c.202 p.Q68K 0.000 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A12 HGNC ENSG00000163221 tier1 - - 95 0 0.00 59 4 6.35 SCNM1 0 genome.wustl.edu 37 1 151139496 151139496 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 151139496 151139496 C T SNP SCNM1 ENST00000368905 human ensembl 74_37 +1 known missense c.209 p.S70F 1.000 NULL NULL - no_errors SCNM1 HGNC ENSG00000163156 tier1 - - 63 0 0.00 34 6 15.00 SCNN1G 0 genome.wustl.edu 37 16 23226660 23226660 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 23226660 23226660 C A SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.1820 p.S607Y 1.000 tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 tier1 - - 28 0 0.00 21 6 22.22 SDHAP1 0 genome.wustl.edu 37 3 195686830 195686830 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 195686830 195686830 G T SNP SDHAP1 ENST00000427149 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors SDHAP1 HGNC ENSG00000185485 tier1 - - 80 0 0.00 72 10 12.20 SEMA3A 0 genome.wustl.edu 37 7 83590866 83590866 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 83590866 83590866 G A SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.2137 p.P713S 1.000 NULL pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 77 0 0.00 57 62 52.10 SEZ6L2 0 genome.wustl.edu 37 16 29888628 29888628 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 29888628 29888628 G T SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.1873 p.P625T 0.972 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 tier1 - - 68 0 0.00 40 7 14.89 SEZ6L2 0 genome.wustl.edu 37 16 29899100 29899100 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 29899100 29899100 G A SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.1078 p.R360C 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 tier1 rs201034422 - 87 0 0.00 39 30 43.48 SGOL2 0 genome.wustl.edu 37 2 201436243 201436243 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 201436243 201436243 G T SNP SGOL2 ENST00000357799 human ensembl 74_37 +1 known nonsense c.1174 p.E392* 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 17 0 0.00 11 2 15.38 SHMT2 0 genome.wustl.edu 37 12 57627884 57627884 + Missense_Mutation SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 57627884 57627884 A G SNP SHMT2 ENST00000328923 human ensembl 74_37 +1 known missense c.1378 p.S460G 0.982 superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 tier1 - - 41 0 0.00 25 9 26.47 SIGLEC1 0 genome.wustl.edu 37 20 3673201 3673201 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 20 3673201 3673201 G A SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.3997 p.R1333C 0.993 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 tier1 - - 62 0 0.00 33 20 37.74 SLC26A3 0 genome.wustl.edu 37 7 107423283 107423283 + Missense_Mutation SNP C C G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 107423283 107423283 C G SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known missense c.1270 p.V424L 0.943 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 tier1 - - 65 0 0.00 26 32 55.17 SLC26A4 0 genome.wustl.edu 37 7 107340538 107340538 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 107340538 107340538 C A SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known missense c.1625 p.P542H 0.995 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 tier1 - - 32 0 0.00 19 23 54.76 SLC27A6 0 genome.wustl.edu 37 5 128365297 128365297 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 128365297 128365297 C A SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.1580 p.S527Y 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 tier1 - - 46 0 0.00 34 10 22.73 SLC44A5 0 genome.wustl.edu 37 1 75684273 75684273 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 75684273 75684273 G A SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known silent c.1431 p.C477 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 67 0 0.00 34 2 5.56 SLC45A2 0 genome.wustl.edu 37 5 33947439 33947439 + Silent SNP A A T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 33947439 33947439 A T SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known silent c.1197 p.G399 0.665 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 tier1 - - 48 0 0.00 21 15 41.67 SLC46A3 0 genome.wustl.edu 37 13 29275613 29275613 + RNA SNP T T G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 13 29275613 29275613 T G SNP SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors SLC46A3 HGNC ENSG00000139508 tier1 - - 15 0 0.00 11 6 35.29 SLC7A11 0 genome.wustl.edu 37 4 139101836 139101836 + Frame_Shift_Del DEL A A - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 139101836 139101836 A - DEL SLC7A11 ENST00000280612 human ensembl 74_37 -1 known frame_shift_del c.1225 p.Y409fs 1.000 pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 tier1 54 0 0.00 23 2 8.00 SLC9A1 0 genome.wustl.edu 37 1 27427705 27427705 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 27427705 27427705 C T SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.2099 p.R700H 1.000 prints_Na/H_exchanger_1 pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 tier1 - - 75 0 0.00 44 4 8.33 SLCO1C1 0 genome.wustl.edu 37 12 20854304 20854304 + Missense_Mutation SNP G G C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 20854304 20854304 G C SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.182 p.G61A 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 140 0 0.00 85 30 26.09 SLX4 0 genome.wustl.edu 37 16 3633275 3633275 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 3633275 3633275 G T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.4976 p.P1659H 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 tier1 - - 108 0 0.00 60 8 11.76 SMAD4 0 genome.wustl.edu 37 18 48604749 48604749 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 18 48604749 48604749 G T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1571 p.W524L 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 - - 63 0 0.00 16 13 44.83 SMARCA5-AS1 0 genome.wustl.edu 37 4 144434713 144434713 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 144434713 144434713 C T SNP SMARCA5-AS1 ENST00000500800 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors SMARCA5-AS1 HGNC ENSG00000245112 tier1 - - 71 0 0.00 42 5 10.64 SMG7 0 genome.wustl.edu 37 1 183519019 183519019 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 183519019 183519019 G T SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known nonsense c.2956 p.E986* 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 41 0 0.00 18 5 21.74 SNIP1 0 genome.wustl.edu 37 1 38003422 38003422 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 38003422 38003422 G A SNP SNIP1 ENST00000296215 human ensembl 74_37 -1 known missense c.1118 p.S373L 1.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 tier1 rs61755314 - 119 0 0.00 30 47 61.04 SNORD104 0 genome.wustl.edu 37 17 62223488 62223488 + RNA SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 62223488 62223488 G T SNP SNORD104 ENST00000362883 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNORD104 HGNC ENSG00000199753 tier1 - - 79 0 0.00 66 34 34.00 SOCS4 0 genome.wustl.edu 37 14 55510760 55510760 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 55510760 55510760 G T SNP SOCS4 ENST00000339298 human ensembl 74_37 +1 known missense c.1001 p.R334I 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 tier1 - - 87 0 0.00 24 17 41.46 SOGA2 0 genome.wustl.edu 37 18 8784602 8784602 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 18 8784602 8784602 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.1492 p.E498K 0.001 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 tier1 - - 27 0 0.00 13 10 43.48 SORBS1 0 genome.wustl.edu 37 10 97101351 97101351 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 97101351 97101351 C A SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known silent c.3294 p.R1098 0.997 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 45 0 0.00 16 9 36.00 SPHKAP 0 genome.wustl.edu 37 2 228882999 228882999 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 228882999 228882999 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.2571 p.S857 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 - - 98 0 0.00 36 28 43.75 SPTBN5 0 genome.wustl.edu 37 15 42153663 42153663 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 42153663 42153663 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.7769 p.R2590H 0.996 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 54 0 0.00 21 4 16.00 SRCAP 0 genome.wustl.edu 37 16 30718900 30718900 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 30718900 30718900 G T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.500 p.R167L 1.000 pfam_Helicase/SANT-assoc_DNA-bd,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 79 0 0.00 30 18 36.73 SRCIN1 0 genome.wustl.edu 37 17 36704897 36704897 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 36704897 36704897 G A SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.3166 p.R1056C 1.000 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 tier1 - - 37 0 0.00 21 16 43.24 SRGAP3 0 genome.wustl.edu 37 3 9036154 9036154 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 9036154 9036154 G T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.2281 p.R761S 0.997 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 28 0 0.00 21 8 27.59 SRRM1 0 genome.wustl.edu 37 1 24996716 24996716 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 24996716 24996716 C A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known silent c.2346 p.P782 0.875 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 tier1 - - 84 0 0.00 41 25 37.88 SRRM1 0 genome.wustl.edu 37 1 24993374 24993374 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 24993374 24993374 C A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.1733 p.P578H 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 70 0 0.00 46 3 6.12 SRRM5 0 genome.wustl.edu 37 19 44117487 44117487 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 44117487 44117487 G T SNP SRRM5 ENST00000526798 human ensembl 74_37 +1 known missense c.1259 p.R420I 0.001 NULL NULL - no_errors SRRM5 HGNC ENSG00000226763 tier1 - - 48 0 0.00 20 18 47.37 ST18 0 genome.wustl.edu 37 8 53074007 53074007 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 53074007 53074007 C A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1522 p.D508Y 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 tier1 - - 109 0 0.00 67 30 30.93 STAG3L3 0 genome.wustl.edu 37 7 72440395 72440395 + RNA SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 72440395 72440395 C A SNP STAG3L3 ENST00000436857 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors STAG3L3 HGNC ENSG00000174353 tier1 - - 46 0 0.00 37 33 47.14 STAT1 0 genome.wustl.edu 37 2 191873763 191873763 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 191873763 191873763 G T SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.199 p.Q67K 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 tier1 - - 38 0 0.00 26 8 23.53 STAT3 0 genome.wustl.edu 37 17 40485740 40485740 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 40485740 40485740 C A SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known missense c.1000 p.D334Y 0.995 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 tier1 - - 46 0 0.00 37 8 17.78 STAT6 0 genome.wustl.edu 37 12 57492845 57492845 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 57492845 57492845 C A SNP STAT6 ENST00000300134 human ensembl 74_37 -1 known missense c.1908 p.K636N 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 tier1 - - 78 0 0.00 46 10 17.86 SUSD2 0 genome.wustl.edu 37 22 24583631 24583631 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 24583631 24583631 G T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known nonsense c.1984 p.E662* 0.305 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 tier1 - - 45 0 0.00 29 4 12.12 SUSD5 0 genome.wustl.edu 37 3 33195262 33195262 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 33195262 33195262 G T SNP SUSD5 ENST00000309558 human ensembl 74_37 -1 known missense c.862 p.L288M 0.001 NULL pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP - no_errors SUSD5 HGNC ENSG00000173705 tier1 - - 43 0 0.00 19 8 29.63 SYNE1 0 genome.wustl.edu 37 6 152776714 152776714 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 152776714 152776714 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.2739 p.K913N 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 16 0 0.00 13 4 23.53 SYP 0 genome.wustl.edu 37 X 49054188 49054188 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 49054188 49054188 G T SNP SYP ENST00000263233 human ensembl 74_37 -1 known missense c.213 p.F71L 0.992 pfam_Marvel,prints_Synaptophysin/porin pfam_Marvel,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 tier1 - - 44 0 0.00 12 16 57.14 SYVN1 0 genome.wustl.edu 37 11 64896048 64896048 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 64896048 64896048 C A SNP SYVN1 ENST00000377190 human ensembl 74_37 -1 known missense c.1734 p.M578I 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 tier1 - - 101 0 0.00 75 5 6.25 TAL2 0 genome.wustl.edu 37 9 108424837 108424837 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 9 108424837 108424837 C A SNP TAL2 ENST00000334077 human ensembl 74_37 +1 known missense c.60 p.S20R 0.113 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TAL2 HGNC ENSG00000186051 tier1 - - 25 0 0.00 21 10 32.26 TAT 0 genome.wustl.edu 37 16 71603806 71603806 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 71603806 71603806 G T SNP TAT ENST00000355962 human ensembl 74_37 -1 known missense c.1076 p.A359D 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 tier1 - - 29 0 0.00 5 4 44.44 TBCB 0 genome.wustl.edu 37 19 36612449 36612449 + Missense_Mutation SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 36612449 36612449 A G SNP TBCB ENST00000221855 human ensembl 74_37 +1 known missense c.376 p.K126E 1.000 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCB HGNC ENSG00000105254 tier1 - - 10 0 0.00 7 4 36.36 TBPL2 0 genome.wustl.edu 37 14 55895654 55895654 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 55895654 55895654 C T SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known missense c.827 p.R276H 1.000 pfam_TBP pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 44 0 0.00 18 4 18.18 TBX15 0 genome.wustl.edu 37 1 119467305 119467305 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 119467305 119467305 G T SNP TBX15 ENST00000207157 human ensembl 74_37 -1 known silent c.339 p.L113 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 tier1 - - 40 0 0.00 6 8 57.14 TCTN2 0 genome.wustl.edu 37 12 124171412 124171412 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 124171412 124171412 C T SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known silent c.594 p.F198 0.874 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 tier1 - - 83 0 0.00 86 8 8.51 TECPR2 0 genome.wustl.edu 37 14 102900832 102900832 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 102900832 102900832 C A SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.1678 p.L560M 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 57 0 0.00 26 2 7.14 TEKT2 0 genome.wustl.edu 37 1 36551586 36551586 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 36551586 36551586 C A SNP TEKT2 ENST00000207457 human ensembl 74_37 +1 known silent c.432 p.I144 0.975 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 tier1 - - 37 0 0.00 30 13 30.23 TENM1 0 genome.wustl.edu 37 X 123838998 123838998 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 123838998 123838998 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.880 p.P294T 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 29 0 0.00 7 22 75.86 TENM2 0 genome.wustl.edu 37 5 167489242 167489242 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 167489242 167489242 G T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.1487 p.R496I 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 64 0 0.00 42 13 23.64 TFE3 0 genome.wustl.edu 37 X 48889017 48889017 + Silent SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 48889017 48889017 C A SNP TFE3 ENST00000315869 human ensembl 74_37 -1 known silent c.1179 p.V393 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFE3 HGNC ENSG00000068323 tier1 - - 33 0 0.00 23 8 25.81 THSD7A 0 genome.wustl.edu 37 7 11633043 11633043 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 11633043 11633043 C A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.1109 p.S370I 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 46 0 0.00 53 3 5.36 TICRR 0 genome.wustl.edu 37 15 90125942 90125942 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 90125942 90125942 G T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.680 p.G227V 0.988 NULL NULL - no_errors TICRR HGNC ENSG00000140534 70 0 0.00 58 4 6.45 TLN2 0 genome.wustl.edu 37 15 63092687 63092687 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 63092687 63092687 G T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.6355 p.A2119S 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 49 0 0.00 29 5 14.71 TMEM132D 0 genome.wustl.edu 37 12 129558777 129558777 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 129558777 129558777 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.2943 p.A981 0.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 54 0 0.00 32 21 39.62 TNFAIP3 0 genome.wustl.edu 37 6 138196069 138196069 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 138196069 138196069 G T SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.383 p.S128I 1.000 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 tier1 - - 50 0 0.00 38 4 9.52 TNXB 0 genome.wustl.edu 37 6 32036692 32036692 + Missense_Mutation SNP A A T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 6 32036692 32036692 A T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5809 p.S1937T 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 54 0 0.00 17 11 39.29 TOMM20L 0 genome.wustl.edu 37 14 58874106 58874106 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 58874106 58874106 G T SNP TOMM20L ENST00000360945 human ensembl 74_37 +1 known nonsense c.325 p.E109* 0.623 superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related - no_errors TOMM20L HGNC ENSG00000196860 tier1 - - 33 0 0.00 16 12 42.86 TOP2B 0 genome.wustl.edu 37 3 25670414 25670414 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 25670414 25670414 G T SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known missense c.1830 p.F610L 1.000 superfamily_Topo_IIA_like_dom,smart_Topo_IIA pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 tier1 - - 61 0 0.00 20 10 33.33 TP53 0 genome.wustl.edu 37 17 7578401 7578401 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 7578401 7578401 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.529 p.P177S 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs147002414 - 397 0 0.00 148 128 46.38 TPTEP1 0 genome.wustl.edu 37 22 17178477 17178477 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 17178477 17178477 C T SNP TPTEP1 ENST00000558085 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TPTEP1 HGNC ENSG00000100181 tier1 - - 96 0 0.00 59 16 21.33 TRIM24 0 genome.wustl.edu 37 7 138268703 138268703 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 138268703 138268703 G T SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.2902 p.D968Y 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 tier1 - - 41 0 0.00 28 4 12.50 TRIM51 0 genome.wustl.edu 37 11 55653117 55653117 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 11 55653117 55653117 G A SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known silent c.213 p.K71 0.002 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 tier1 - - 179 0 0.00 100 44 30.56 TRIP11 0 genome.wustl.edu 37 14 92472507 92472507 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 92472507 92472507 C A SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known nonsense c.1813 p.E605* 0.997 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 tier1 - - 110 0 0.00 42 22 34.38 TRIP12 0 genome.wustl.edu 37 2 230660024 230660024 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 230660024 230660024 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.3614 p.G1205E 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 41 0 0.00 22 7 23.33 TSKS 0 genome.wustl.edu 37 19 50243122 50243122 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 50243122 50243122 G T SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.1690 p.L564M 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 tier1 - - 55 0 0.00 48 12 20.00 TTLL1 0 genome.wustl.edu 37 22 43464566 43464566 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 43464566 43464566 G T SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known missense c.353 p.A118D 0.996 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 35 0 0.00 23 3 11.54 TTLL7 0 genome.wustl.edu 37 1 84417943 84417943 + RNA SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 84417943 84417943 T C SNP TTLL7 ENST00000477524 human ensembl 74_37 -1 known rna NULL NULL 0.125 - - - no_errors TTLL7 HGNC ENSG00000137941 tier1 - - 24 0 0.00 12 5 29.41 TTN 0 genome.wustl.edu 37 2 179431596 179431596 + Nonsense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 179431596 179431596 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.71559 p.Y23853* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 47 0 0.00 31 4 11.43 TTN 0 genome.wustl.edu 37 2 179620975 179620975 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 179620975 179620975 G A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.10715 p.T3572M 0.010 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 65 0 0.00 36 4 10.00 TUBA3D 0 genome.wustl.edu 37 2 132238133 132238133 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 132238133 132238133 C T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known silent c.867 p.A289 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 tier1 rs140955382 - 130 0 0.00 61 38 38.38 TUBA3FP 0 genome.wustl.edu 37 22 21367445 21367445 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 21367445 21367445 C T SNP TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors TUBA3FP HGNC ENSG00000161149 tier1 - - 24 0 0.00 17 7 29.17 TUBA3FP 0 genome.wustl.edu 37 22 21368288 21368288 + RNA SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 22 21368288 21368288 C T SNP TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 22 0 0.00 29 4 12.12 TULP2 0 genome.wustl.edu 37 19 49387034 49387034 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 49387034 49387034 G T SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known silent c.1252 p.R418 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 tier1 - - 108 0 0.00 41 18 30.51 TXNDC16 0 genome.wustl.edu 37 14 52937324 52937324 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 52937324 52937324 C T SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.1387 p.E463K 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 tier1 - - 47 0 0.00 16 10 38.46 UBR4 0 genome.wustl.edu 37 1 19500928 19500928 + Missense_Mutation SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 19500928 19500928 A G SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.2867 p.L956P 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 55 0 0.00 33 3 8.33 UNC13C 0 genome.wustl.edu 37 15 54306906 54306906 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 15 54306906 54306906 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.1806 p.K602 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 53 0 0.00 29 6 17.14 UNC13D 0 genome.wustl.edu 37 17 73830787 73830787 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 17 73830787 73830787 C T SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known missense c.2003 p.R668H 1.000 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 tier1 rs143939013 - 31 0 0.00 11 7 36.84 UNC79 0 genome.wustl.edu 37 14 94088106 94088106 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 14 94088106 94088106 G T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.4593 p.S1531 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 tier1 - - 30 0 0.00 29 9 23.08 UNKL 0 genome.wustl.edu 37 16 1456057 1456057 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 1456057 1456057 C A SNP UNKL ENST00000397462 human ensembl 74_37 -1 known missense c.398 p.W133L 0.022 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC ENSG00000059145 tier1 - - 61 0 0.00 23 20 46.51 USP24 0 genome.wustl.edu 37 1 55612610 55612610 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 55612610 55612610 C A SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.1762 p.D588Y 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 40 0 0.00 21 14 40.00 USP26 0 genome.wustl.edu 37 X 132161455 132161455 + Missense_Mutation SNP A A G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 132161455 132161455 A G SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.794 p.V265A 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 tier1 - - 27 0 0.00 12 17 58.62 UTP20 0 genome.wustl.edu 37 12 101732688 101732688 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 101732688 101732688 G T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.3966 p.K1322N 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 25 0 0.00 12 3 20.00 UVSSA 0 genome.wustl.edu 37 4 1374728 1374728 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 1374728 1374728 G T SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1813 p.D605Y 1.000 pfam_DUF2043 pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 tier1 - - 49 0 0.00 20 7 25.93 VAV1 0 genome.wustl.edu 37 19 6821807 6821807 + Missense_Mutation SNP T T C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 6821807 6821807 T C SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.386 p.F129S 1.000 superfamily_CH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 tier1 - - 49 0 0.00 21 7 25.00 VWDE 0 genome.wustl.edu 37 7 12379975 12379975 + Nonsense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 12379975 12379975 C A SNP VWDE ENST00000275358 human ensembl 74_37 -1 novel nonsense c.4339 p.G1447* 0.999 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_extracell,pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 43 0 0.00 43 4 8.51 WBSCR27 0 genome.wustl.edu 37 7 73254452 73254453 + Splice_Site DEL TG TG - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 73254452 73254453 TG - DEL WBSCR27 ENST00000297873 human ensembl 74_37 -1 known splice_site_del c.389-3_389-2 e4-2 0.468:0.402 - - - no_errors WBSCR27 HGNC ENSG00000165171 tier1 26 0 0.00 28 21 42.86 WDR52 0 genome.wustl.edu 37 3 113015691 113015691 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 113015691 113015691 C A SNP WDR52 ENST00000393845 human ensembl 74_37 -1 known missense c.5119 p.G1707C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR52 HGNC ENSG00000206530 tier1 - - 53 0 0.00 30 7 18.92 WDR66 0 genome.wustl.edu 37 12 122359379 122359381 + In_Frame_Del DEL AAC AAC - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 122359379 122359381 AAC - DEL WDR66 ENST00000288912 human ensembl 74_37 +1 known in_frame_del c.168_170 p.T57in_frame_del 0.001:0.000:0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 14 0 0.00 9 4 30.77 WDR66 0 genome.wustl.edu 37 12 122359385 122359385 + Frame_Shift_Del DEL C C - TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 122359385 122359385 C - DEL WDR66 ENST00000288912 human ensembl 74_37 +1 known frame_shift_del c.174 p.E59fs 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 tier1 14 0 0.00 8 4 33.33 XIRP2 0 genome.wustl.edu 37 2 167760159 167760159 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 167760159 167760159 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.167 p.S56F 0.007 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 62 0 0.00 34 6 15.00 YME1L1 0 genome.wustl.edu 37 10 27408224 27408224 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 10 27408224 27408224 C A SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.1737 p.M579I 1.000 pfam_Peptidase_M41,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 tier1 - - 37 0 0.00 9 5 35.71 YPEL5 0 genome.wustl.edu 37 2 30379342 30379342 + RNA SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 2 30379342 30379342 C A SNP YPEL5 ENST00000495673 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors YPEL5 HGNC ENSG00000119801 tier1 - - 23 0 0.00 12 8 40.00 YY1AP1 0 genome.wustl.edu 37 1 155629732 155629732 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 155629732 155629732 G A SNP YY1AP1 ENST00000368339 human ensembl 74_37 -1 known missense c.2383 p.P795S 0.882 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 tier1 - - 69 0 0.00 25 19 43.18 ZBTB41 0 genome.wustl.edu 37 1 197128851 197128851 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 197128851 197128851 C A SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.2368 p.V790F 0.106 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 ZBTB41 HGNC ENSG00000177888 tier1 - - 172 0 0.00 81 38 31.93 ZBTB47 0 genome.wustl.edu 37 3 42700678 42700678 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 3 42700678 42700678 C T SNP ZBTB47 ENST00000232974 human ensembl 74_37 +1 known silent c.831 p.D277 0.993 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 ENSG00000114853 21 0 0.00 12 5 29.41 ZC3H3 0 genome.wustl.edu 37 8 144550431 144550431 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 144550431 144550431 C A SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.2123 p.C708F 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 tier1 - - 62 0 0.00 56 24 30.00 ZC3HAV1 0 genome.wustl.edu 37 7 138764691 138764691 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 7 138764691 138764691 C A SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.996 p.E332D 0.400 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 tier1 - - 52 0 0.00 50 8 13.79 ZDHHC11B 0 genome.wustl.edu 37 5 756143 756143 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 756143 756143 G T SNP ZDHHC11B ENST00000382776 human ensembl 74_37 -1 known missense c.339 p.F113L 0.914 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 29 0 0.00 17 7 29.17 ZNF135 0 genome.wustl.edu 37 19 58574827 58574827 + Silent SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 58574827 58574827 G A SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known silent c.210 p.P70 0.000 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 ZNF135 HGNC ENSG00000176293 tier1 - - 57 0 0.00 21 19 47.50 ZNF185 0 genome.wustl.edu 37 X 152097182 152097182 + Silent SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 X 152097182 152097182 G T SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known silent c.891 p.V297 0.986 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 - - 53 0 0.00 17 47 73.44 ZNF252P 0 genome.wustl.edu 37 8 146202598 146202598 + RNA SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 8 146202598 146202598 C A SNP ZNF252P ENST00000426361 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors ZNF252P HGNC ENSG00000196922 tier1 - - 52 0 0.00 23 9 28.12 ZNF268 0 genome.wustl.edu 37 12 133780453 133780453 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 12 133780453 133780453 G T SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.2181 p.R727S 0.001 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 ZNF268 HGNC ENSG00000090612 tier1 - - 65 0 0.00 54 4 6.90 ZNF317 0 genome.wustl.edu 37 19 9271573 9271573 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 9271573 9271573 G A SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known missense c.1252 p.V418M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF317 HGNC ENSG00000130803 tier1 - - 39 0 0.00 25 9 26.47 ZNF354C 0 genome.wustl.edu 37 5 178506424 178506424 + Missense_Mutation SNP G G A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 5 178506424 178506424 G A SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.991 p.G331S 0.115 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 ZNF354C HGNC ENSG00000177932 tier1 rs149169026 - 28 0 0.00 17 4 19.05 ZNF518B 0 genome.wustl.edu 37 4 10445662 10445662 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 4 10445662 10445662 G T SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known missense c.2291 p.A764D 0.048 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 tier1 - - 36 0 0.00 10 4 28.57 ZNF524 0 genome.wustl.edu 37 19 56114037 56114037 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 56114037 56114037 C T SNP ZNF524 ENST00000301073 human ensembl 74_37 +1 known missense c.559 p.H187Y 0.091 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF524 HGNC ENSG00000171443 13 0 0.00 10 6 37.50 ZNF552 0 genome.wustl.edu 37 19 58320386 58320386 + Missense_Mutation SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 58320386 58320386 C T SNP ZNF552 ENST00000391701 human ensembl 74_37 -1 known missense c.246 p.M82I 0.002 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 ZNF552 HGNC ENSG00000178935 tier1 - - 26 0 0.00 21 11 34.38 ZNF613 0 genome.wustl.edu 37 19 52448658 52448658 + Missense_Mutation SNP G G T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 52448658 52448658 G T SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.1522 p.G508W 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 tier1 - - 56 0 0.00 21 36 63.16 ZNF665 0 genome.wustl.edu 37 19 53686050 53686050 + RNA SNP T T G TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 19 53686050 53686050 T G SNP ZNF665 ENST00000598440 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF665 HGNC ENSG00000197497 tier1 - - 125 0 0.00 60 59 49.58 ZNF678 0 genome.wustl.edu 37 1 227834356 227834356 + Missense_Mutation SNP A A C TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 1 227834356 227834356 A C SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known missense c.235 p.N79H 0.938 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 ZNF678 HGNC ENSG00000181450 tier1 - - 100 0 0.00 46 8 14.81 ZNF768 0 genome.wustl.edu 37 16 30536019 30536019 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5 f5a7b9b7-93ee-4402-bdbb-f582ed0568b5 16 30536019 30536019 C A SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.1442 p.G481V 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 tier1 - - 150 0 0.00 78 49 38.58