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 A4GNT 0 genome.wustl.edu 37 3 137849810 137849810 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 137849810 137849810 G A SNP A4GNT ENST00000236709 human ensembl 74_37 -1 known missense c.289 p.P97S 0.000 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GNT HGNC ENSG00000118017 tier1 - - 60 0 0.00 38 4 9.52 ACACA 0 genome.wustl.edu 37 17 35545292 35545292 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 35545292 35545292 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.4701 p.L1567 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 100 0 0.00 72 10 12.20 ADAMTS18 0 genome.wustl.edu 37 16 77353746 77353746 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 77353746 77353746 T G SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.2532 p.E844D 1.000 pfam_ADAM_spacer1 pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 58 0 0.00 27 2 6.67 ADHFE1 0 genome.wustl.edu 37 8 67357611 67357611 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 67357611 67357611 G A SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known missense c.512 p.G171E 1.000 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 tier1 - - 47 0 0.00 29 21 42.00 AGAP6 0 genome.wustl.edu 37 10 51769578 51769578 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 51769578 51769578 C T SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.1624 p.R542W 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 tier1 - - 135 0 0.00 111 17 13.28 AGBL1 0 genome.wustl.edu 37 15 86838515 86838515 + Silent SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 86838515 86838515 C A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.2112 p.V704 0.049 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 54 0 0.00 22 13 37.14 AGL 0 genome.wustl.edu 37 1 100382219 100382219 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 100382219 100382219 G A SNP AGL ENST00000294724 human ensembl 74_37 +1 known silent c.4413 p.P1471 0.686 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 tier1 - - 66 0 0.00 35 14 28.57 AGPAT6 0 genome.wustl.edu 37 8 41469749 41469749 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 41469749 41469749 C T SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known missense c.752 p.P251L 0.999 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 tier1 - - 60 0 0.00 28 5 15.15 AGT 0 genome.wustl.edu 37 1 230839072 230839072 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 230839072 230839072 G T SNP AGT ENST00000366667 human ensembl 74_37 -1 known missense c.1273 p.L425M 0.969 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 tier1 - - 61 0 0.00 28 3 9.68 AGXT 0 genome.wustl.edu 37 2 241818185 241818185 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 241818185 241818185 G A SNP AGXT ENST00000307503 human ensembl 74_37 +1 known missense c.1126 p.V376M 0.012 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 tier1 - - 111 0 0.00 57 27 32.14 AHDC1 0 genome.wustl.edu 37 1 27874532 27874532 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 27874532 27874532 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.4095 p.C1365 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 86 0 0.00 52 3 5.45 AJAP1 0 genome.wustl.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 4772583 4772585 CCA - DEL AJAP1 ENST00000378190 human ensembl 74_37 +1 known in_frame_del c.653_655 p.T222in_frame_del 0.919:0.855:0.873 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 tier1 109 0 0.00 34 3 8.11 ALDH9A1 0 genome.wustl.edu 37 1 165638177 165638177 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 165638177 165638177 C T SNP ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known missense c.1193 p.R398K 0.888 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 tier1 - - 42 0 0.00 26 6 18.75 ANGPT1 0 genome.wustl.edu 37 8 108334253 108334253 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 108334253 108334253 T G SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.679 p.T227P 0.951 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 50 0 0.00 71 11 13.41 ANGPT1 0 genome.wustl.edu 37 8 108359297 108359297 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 108359297 108359297 T G SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.326 p.K109T 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 65 0 0.00 48 7 12.73 ANK1 0 genome.wustl.edu 37 8 41580706 41580706 + Missense_Mutation SNP A A T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 41580706 41580706 A T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.846 p.N282K 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 69 0 0.00 55 4 6.78 ANKIB1 0 genome.wustl.edu 37 7 91974350 91974350 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 91974350 91974350 G T SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.1055 p.G352V 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 32 0 0.00 45 4 8.16 AP4B1 0 genome.wustl.edu 37 1 114438762 114438762 + RNA SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 114438762 114438762 C T SNP AP4B1 ENST00000479285 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP4B1 HGNC ENSG00000134262 tier1 - - 23 0 0.00 12 8 40.00 AQPEP 0 genome.wustl.edu 37 5 115327967 115327967 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 115327967 115327967 G T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1253 p.G418V 0.972 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 101 0 0.00 37 2 5.13 ARG2 0 genome.wustl.edu 37 14 68086728 68086728 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 68086728 68086728 C T SNP ARG2 ENST00000261783 human ensembl 74_37 +1 known nonsense c.34 p.Q12* 0.007 NULL pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 tier1 - - 83 0 0.00 31 21 40.38 ARHGAP32 0 genome.wustl.edu 37 11 128840140 128840140 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 128840140 128840140 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.4926 p.E1642 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 66 0 0.00 26 6 18.75 ARHGEF16 0 genome.wustl.edu 37 1 3382716 3382716 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 3382716 3382716 C T SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.593 p.T198M 0.997 NULL pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 tier1 - - 63 0 0.00 38 26 40.62 ARID3B 0 genome.wustl.edu 37 15 74836313 74836313 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 74836313 74836313 G A SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known silent c.36 p.Q12 0.998 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 24 0 0.00 30 2 6.25 ARSB 0 genome.wustl.edu 37 5 78181610 78181610 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 78181610 78181610 G T SNP ARSB ENST00000264914 human ensembl 74_37 -1 known silent c.939 p.P313 0.950 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSB HGNC ENSG00000113273 tier1 - - 81 0 0.00 37 4 9.76 ASPDH 0 genome.wustl.edu 37 19 51016201 51016201 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 51016201 51016201 G A SNP ASPDH ENST00000389208 human ensembl 74_37 -1 known missense c.265 p.R89C 0.633 pfam_Asp/hSer_DH_NAD-bd pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd - no_errors ASPDH HGNC ENSG00000204653 29 0 0.00 46 4 8.00 ATG2A 0 genome.wustl.edu 37 11 64681916 64681916 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 64681916 64681916 G T SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.228 p.F76L 0.987 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 81 0 0.00 71 4 5.33 ATP5SL 0 genome.wustl.edu 37 19 41942337 41942337 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 41942337 41942337 C T SNP ATP5SL ENST00000417807 human ensembl 74_37 -1 known missense c.274 p.A92T 0.014 NULL NULL - no_errors ATP5SL HGNC ENSG00000105341 tier1 - - 43 0 0.00 8 8 50.00 ATXN7L2 0 genome.wustl.edu 37 1 110033883 110033883 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 110033883 110033883 G T SNP ATXN7L2 ENST00000369870 human ensembl 74_37 +1 known missense c.1698 p.E566D 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L2 HGNC ENSG00000162650 tier1 - - 72 0 0.00 48 4 7.69 B4GALT6 0 genome.wustl.edu 37 18 29264294 29264294 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 18 29264294 29264294 G A SNP B4GALT6 ENST00000306851 human ensembl 74_37 -1 known silent c.96 p.I32 1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 tier1 - - 66 0 0.00 183 12 6.15 BCHE 0 genome.wustl.edu 37 3 165548603 165548604 + Frame_Shift_Ins INS - - T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 165548603 165548604 - T INS BCHE ENST00000264381 human ensembl 74_37 -1 known frame_shift_ins c.219_218 p.P74fs 1.000:1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 67 0 0.00 54 10 15.62 BGN 0 genome.wustl.edu 37 X 152773854 152773854 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 152773854 152773854 G A SNP BGN ENST00000331595 human ensembl 74_37 +1 known missense c.1058 p.R353H 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC ENSG00000182492 tier1 - - 28 0 0.00 9 12 57.14 BLVRA 0 genome.wustl.edu 37 7 43832405 43832405 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 43832405 43832405 C T SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known nonsense c.346 p.Q116* 0.998 pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 tier1 - - 26 0 0.00 22 7 24.14 BMP3 0 genome.wustl.edu 37 4 81952745 81952745 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 81952745 81952745 G T SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.307 p.A103S 0.000 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 tier1 - - 19 0 0.00 14 4 22.22 BSND 0 genome.wustl.edu 37 1 55474127 55474127 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 55474127 55474127 G T SNP BSND ENST00000371265 human ensembl 74_37 +1 known silent c.789 p.L263 0.402 NULL NULL - no_errors BSND HGNC ENSG00000162399 94 0 0.00 32 2 5.88 C12orf55 0 genome.wustl.edu 37 12 97038008 97038008 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 97038008 97038008 T G SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4369 p.L1457V 0.058 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 65 0 0.00 22 10 31.25 C12orf55 0 genome.wustl.edu 37 12 97178582 97178583 + Frame_Shift_Del DEL CT CT - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 97178582 97178583 CT - DEL C12orf55 ENST00000524981 human ensembl 74_37 +1 putative frame_shift_del c.8369_8370 p.Q2791fs 0.000:0.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 72 0 0.00 40 11 21.57 C1orf173 0 genome.wustl.edu 37 1 75086495 75086495 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 75086495 75086495 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.923 p.R308Q 0.982 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 57 0 0.00 27 14 34.15 C3 0 genome.wustl.edu 37 19 6684428 6684428 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 6684428 6684428 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known silent c.4143 p.K1381 0.294 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 71 0 0.00 37 2 5.13 CA2 0 genome.wustl.edu 37 8 86389489 86389489 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 86389489 86389489 C T SNP CA2 ENST00000285379 human ensembl 74_37 +1 known silent c.648 p.S216 0.009 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 tier1 - - 92 0 0.00 60 4 6.25 CACNA1D 0 genome.wustl.edu 37 3 53835354 53835354 + Frame_Shift_Del DEL G G - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 53835354 53835354 G - DEL CACNA1D ENST00000288139 human ensembl 74_37 +1 known frame_shift_del c.5370 p.K1790fs 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 tier1 62 0 0.00 35 2 5.41 CAD 0 genome.wustl.edu 37 2 27465570 27465570 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 27465570 27465570 G A SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.6305 p.R2102H 1.000 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Asp_carbamoyltransf pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 39 0 0.00 19 2 9.52 CADM3 0 genome.wustl.edu 37 1 159162383 159162383 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 159162383 159162383 G T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.347 p.R116L 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 48 0 0.00 38 2 5.00 CAMK4 0 genome.wustl.edu 37 5 110730420 110730420 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 110730420 110730420 G A SNP CAMK4 ENST00000514007 human ensembl 74_37 +1 known missense c.316 p.G106R 0.967 pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors CAMK4 HGNC ENSG00000152495 tier1 - - 72 0 0.00 31 10 23.81 CAPN15 0 genome.wustl.edu 37 16 597668 597668 + Missense_Mutation SNP G G C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 597668 597668 G C SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.830 p.G277A 0.981 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 30 0 0.00 14 3 17.65 CASP5 0 genome.wustl.edu 37 11 104878040 104878041 + Frame_Shift_Ins INS - - T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 104878040 104878041 - T INS CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_ins c.242_241 p.T81fs 0.000:0.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 tier1 46 0 0.00 44 5 10.20 CC2D2A 0 genome.wustl.edu 37 4 15477593 15477593 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 15477593 15477593 G T SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known nonsense c.37 p.E13* 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 73 0 0.00 45 4 8.16 CCDC175 0 genome.wustl.edu 37 14 59977428 59977428 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 59977428 59977428 C T SNP CCDC175 ENST00000281581 human ensembl 74_37 -1 known nonsense c.2241 p.W747* 0.669 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 - - 55 0 0.00 31 4 11.43 CCDC178 0 genome.wustl.edu 37 18 30846889 30846889 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 18 30846889 30846889 G T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.1400 p.T467N 0.126 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 47 0 0.00 25 9 26.47 CCDC82 0 genome.wustl.edu 37 11 96098237 96098237 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 96098237 96098237 C T SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known silent c.1287 p.L429 0.828 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 tier1 - - 109 0 0.00 61 4 6.15 CCDC88B 0 genome.wustl.edu 37 11 64119645 64119645 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 64119645 64119645 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.3143 p.R1048Q 0.051 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 43 0 0.00 40 3 6.98 CCL16 0 genome.wustl.edu 37 17 34308432 34308432 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 34308432 34308432 A G SNP CCL16 ENST00000293275 human ensembl 74_37 -1 known missense c.25 p.S9P 0.007 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL16 HGNC ENSG00000161573 51 0 0.00 21 3 12.50 CCR2 0 genome.wustl.edu 37 3 46401294 46401294 + Missense_Mutation SNP A A T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 46401294 46401294 A T SNP CCR2 ENST00000292301 human ensembl 74_37 +1 known missense c.1068 p.K356N 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 tier1 - - 44 0 0.00 15 12 44.44 CDH24 0 genome.wustl.edu 37 14 23518387 23518387 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 23518387 23518387 C T SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known silent c.1809 p.A603 0.001 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 12 0 0.00 4 3 42.86 CEP97 0 genome.wustl.edu 37 3 101451488 101451488 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 101451488 101451488 C T SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known nonsense c.718 p.Q240* 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 tier1 - - 56 0 0.00 27 5 15.62 CETN1 0 genome.wustl.edu 37 18 580763 580763 + Missense_Mutation SNP G G C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 18 580763 580763 G C SNP CETN1 ENST00000327228 human ensembl 74_37 +1 known missense c.355 p.G119R 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN1 HGNC ENSG00000177143 40 0 0.00 19 2 9.52 CHDH 0 genome.wustl.edu 37 3 53856660 53856660 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 53856660 53856660 C T SNP CHDH ENST00000315251 human ensembl 74_37 -1 known nonsense c.713 p.W238* 1.000 pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 tier1 - - 23 0 0.00 23 4 14.81 CHMP7 0 genome.wustl.edu 37 8 23116593 23116593 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 23116593 23116593 G T SNP CHMP7 ENST00000313219 human ensembl 74_37 +1 known missense c.1074 p.Q358H 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP7 HGNC ENSG00000147457 49 0 0.00 36 2 5.26 CIB3 0 genome.wustl.edu 37 19 16272270 16272270 + RNA SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 16272270 16272270 G T SNP CIB3 ENST00000541493 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CIB3 HGNC ENSG00000141977 tier1 - - 58 0 0.00 21 11 34.38 CILP 0 genome.wustl.edu 37 15 65490736 65490736 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 65490736 65490736 G T SNP CILP ENST00000261883 human ensembl 74_37 -1 known silent c.1888 p.R630 0.995 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 tier1 - - 88 0 0.00 69 4 5.48 CLSTN2 0 genome.wustl.edu 37 3 140277646 140277646 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 140277646 140277646 A C SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.1988 p.K663T 0.998 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 58 0 0.00 17 17 50.00 CNTN1 0 genome.wustl.edu 37 12 41365260 41365260 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 41365260 41365260 A C SNP CNTN1 ENST00000360099 human ensembl 74_37 +1 known missense c.1829 p.K610T 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 55 0 0.00 38 14 26.92 CNTN3 0 genome.wustl.edu 37 3 74350929 74350929 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 74350929 74350929 T G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1814 p.K605T 0.065 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 75 0 0.00 35 9 20.00 CNTN4 0 genome.wustl.edu 37 3 3076351 3076351 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 3076351 3076351 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.1819 p.E607K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 50 0 0.00 19 14 42.42 CNTNAP2 0 genome.wustl.edu 37 7 147869444 147869444 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 147869444 147869444 G A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2884 p.G962R 0.996 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 78 0 0.00 35 10 22.22 CNTNAP4 0 genome.wustl.edu 37 16 76569521 76569521 + Missense_Mutation SNP A A T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 76569521 76569521 A T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.2832 p.E944D 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 - - 103 0 0.00 53 11 17.19 CNTNAP5 0 genome.wustl.edu 37 2 125232373 125232373 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 125232373 125232373 T G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.976 p.F326V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 88 0 0.00 53 5 8.62 COL11A2 0 genome.wustl.edu 37 6 33130698 33130698 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 33130698 33130698 G A SNP COL11A2 ENST00000477772 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 97 0 0.00 27 30 52.63 COL12A1 0 genome.wustl.edu 37 6 75834919 75834919 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 75834919 75834919 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.6531 p.S2177 0.952 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 70 0 0.00 41 4 8.89 COL1A2 0 genome.wustl.edu 37 7 94039079 94039079 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 94039079 94039079 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known silent c.981 p.R327 0.946 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 22 0 0.00 8 3 27.27 COL22A1 0 genome.wustl.edu 37 8 139658917 139658917 + Silent SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 139658917 139658917 A G SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.3456 p.A1152 0.999 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 105 0 0.00 55 12 17.91 COL6A6 0 genome.wustl.edu 37 3 130307988 130307988 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 130307988 130307988 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.4180 p.D1394Y 0.902 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 115 0 0.00 60 4 6.25 COLQ 0 genome.wustl.edu 37 3 15493171 15493171 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 15493171 15493171 G T SNP COLQ ENST00000383788 human ensembl 74_37 -1 known missense c.1348 p.P450T 0.995 NULL pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 tier1 - - 40 0 0.00 22 4 15.38 CSMD1 0 genome.wustl.edu 37 8 3038632 3038632 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 3038632 3038632 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5728 p.T1910P 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 77 0 0.00 56 10 15.15 CSMD1 0 genome.wustl.edu 37 8 3216778 3216778 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 3216778 3216778 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3203 p.L1068P 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 57 0 0.00 25 7 21.88 CSMD3 0 genome.wustl.edu 37 8 114111134 114111134 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 114111134 114111134 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.768 p.S256R 0.995 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 58 0 0.00 50 11 18.03 CTDSP2 0 genome.wustl.edu 37 12 58217849 58217849 + Frame_Shift_Del DEL C C - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 58217849 58217849 C - DEL CTDSP2 ENST00000398073 human ensembl 74_37 -1 known frame_shift_del c.528 p.L177fs 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP2 HGNC ENSG00000175215 tier1 52 0 0.00 15 2 11.76 CUX2 0 genome.wustl.edu 37 12 111731320 111731320 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 111731320 111731320 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.507 p.G169 0.987 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 90 0 0.00 44 15 25.42 CUX2 0 genome.wustl.edu 37 12 111748306 111748306 + Silent SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 111748306 111748306 C A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.1720 p.R574 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 tier1 - - 54 0 0.00 37 8 17.78 CYTH3 0 genome.wustl.edu 37 7 6210872 6210872 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 6210872 6210872 G A SNP CYTH3 ENST00000350796 human ensembl 74_37 -1 known missense c.523 p.R175C 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH3 HGNC ENSG00000008256 tier1 - - 87 0 0.00 35 7 16.67 DAB2 0 genome.wustl.edu 37 5 39390560 39390560 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 39390560 39390560 T G SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.448 p.K150Q 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 tier1 - - 49 0 0.00 22 5 18.52 DAXX 0 genome.wustl.edu 37 6 33289534 33289534 + Missense_Mutation SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 33289534 33289534 T C SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.169 p.K57E 1.000 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 tier1 - - 57 0 0.00 18 25 58.14 DCC 0 genome.wustl.edu 37 18 50731590 50731590 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 18 50731590 50731590 A C SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.1578 p.Q526H 1.000 superfamily_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 58 0 0.00 29 7 19.44 DCX 0 genome.wustl.edu 37 X 110653364 110653364 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 110653364 110653364 G A SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.506 p.T169M 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 tier1 - - 35 0 0.00 16 12 42.86 DDX20 0 genome.wustl.edu 37 1 112302086 112302086 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 112302086 112302086 G T SNP DDX20 ENST00000369702 human ensembl 74_37 +1 known missense c.461 p.G154V 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,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 DDX20 HGNC ENSG00000064703 tier1 - - 68 0 0.00 43 4 8.51 DDX49 0 genome.wustl.edu 37 19 19035489 19035489 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 19035489 19035489 G T SNP DDX49 ENST00000247003 human ensembl 74_37 +1 known missense c.910 p.A304S 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 DDX49 HGNC ENSG00000105671 tier1 - - 94 0 0.00 63 4 5.97 DDX60 0 genome.wustl.edu 37 4 169172191 169172191 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 169172191 169172191 C T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.3772 p.E1258K 0.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 123 0 0.00 47 3 6.00 DEFB115 0 genome.wustl.edu 37 20 29847380 29847380 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 20 29847380 29847380 A G SNP DEFB115 ENST00000400552 human ensembl 74_37 +1 known missense c.212 p.K71R 0.015 NULL NULL - no_errors DEFB115 HGNC ENSG00000215547 56 0 0.00 34 2 5.56 DENND4C 0 genome.wustl.edu 37 9 19324506 19324506 + Splice_Site SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 19324506 19324506 G T SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known splice_site c.1953+1 e12+1 1.000 - - - no_errors DENND4C HGNC ENSG00000137145 tier1 - - 78 0 0.00 47 4 7.84 DEPDC5 0 genome.wustl.edu 37 22 32289687 32289687 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 22 32289687 32289687 G T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known nonsense c.4087 p.E1363* 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 34 0 0.00 25 2 7.41 DGKB 0 genome.wustl.edu 37 7 14613990 14613990 + Missense_Mutation SNP T T A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 14613990 14613990 T A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.1620 p.E540D 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 tier1 - - 61 0 0.00 39 6 13.33 DHRS3 0 genome.wustl.edu 37 1 12632790 12632792 + In_Frame_Del DEL GGA GGA - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 12632790 12632792 GGA - DEL DHRS3 ENST00000376223 human ensembl 74_37 -1 known in_frame_del c.790_788 p.L263in_frame_del 1.000:0.999:1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 tier1 82 0 0.00 18 3 14.29 DHX40 0 genome.wustl.edu 37 17 57644075 57644075 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 57644075 57644075 G A SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.200 p.R67K 0.996 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 tier1 - - 122 0 0.00 51 19 27.14 DLC1 0 genome.wustl.edu 37 8 12947789 12947789 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 12947789 12947789 G T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known nonsense c.4046 p.S1349* 0.790 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 36 0 0.00 18 2 10.00 DLGAP3 0 genome.wustl.edu 37 1 35370007 35370007 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 35370007 35370007 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known silent c.978 p.S326 0.201 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 55 0 0.00 47 8 14.55 DNAH2 0 genome.wustl.edu 37 17 7636537 7636537 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 7636537 7636537 G T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.532 p.V178F 0.505 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 37 0 0.00 49 4 7.55 DNAH5 0 genome.wustl.edu 37 5 13717530 13717530 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 13717530 13717530 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.12599 p.K4200T 1.000 pfam_Dynein_heavy_dom 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 - - 60 0 0.00 14 4 22.22 DNAJA1 0 genome.wustl.edu 37 9 33029944 33029944 + Frame_Shift_Del DEL A A - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 33029944 33029944 A - DEL DNAJA1 ENST00000330899 human ensembl 74_37 +1 known frame_shift_del c.372 p.K125fs 0.900 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 tier1 61 0 0.00 35 2 5.41 DNAJC6 0 genome.wustl.edu 37 1 65852544 65852544 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 65852544 65852544 G T SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.1045 p.V349L 0.996 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 tier1 - - 51 0 0.00 70 4 5.41 DNLZ 0 genome.wustl.edu 37 9 139256519 139256519 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 139256519 139256519 G A SNP DNLZ ENST00000371738 human ensembl 74_37 -1 known missense c.482 p.P161L 0.000 NULL pfam_Znf_DNL-typ - no_errors DNLZ HGNC ENSG00000213221 tier1 - - 54 0 0.00 45 6 11.76 DPP10 0 genome.wustl.edu 37 2 116538543 116538543 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 116538543 116538543 G T SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1467 p.M489I 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 60 0 0.00 49 4 7.55 DPP10 0 genome.wustl.edu 37 2 116539961 116539961 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 116539961 116539961 C T SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.1529 p.T510M 0.508 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 102 0 0.00 38 2 5.00 DYNC2H1 0 genome.wustl.edu 37 11 103191922 103191923 + Frame_Shift_Ins INS - - T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 103191922 103191923 - T INS DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known frame_shift_ins c.11911_11912 p.P3973fs 0.000:0.006 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 72 0 0.00 40 12 23.08 EHD3 0 genome.wustl.edu 37 2 31484569 31484569 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 31484569 31484569 A G SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known missense c.1070 p.K357R 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 tier1 - - 70 0 0.00 32 5 13.51 EHMT1 0 genome.wustl.edu 37 9 140611616 140611616 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 140611616 140611616 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.624 p.P208 0.684 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 45 0 0.00 35 2 5.26 EIF3D 0 genome.wustl.edu 37 22 36919267 36919267 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 22 36919267 36919267 G T SNP EIF3D ENST00000216190 human ensembl 74_37 -1 known missense c.454 p.Q152K 1.000 pfam_eIF3d,pirsf_eIF3d pfam_eIF3d,pirsf_eIF3d - no_errors EIF3D HGNC ENSG00000100353 tier1 - - 102 0 0.00 41 4 8.89 ENDOV 0 genome.wustl.edu 37 17 78399375 78399375 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 78399375 78399375 G A SNP ENDOV ENST00000520484 human ensembl 74_37 +1 known missense c.322 p.D108N 0.952 NULL NULL - no_errors ENDOV HGNC ENSG00000173818 tier1 - - 29 0 0.00 50 27 35.06 ENSG00000231817 0 genome.wustl.edu 37 13 47038950 47038950 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 13 47038950 47038950 G A SNP ENSG00000231817 ENST00000593640 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 tier1 - - 24 0 0.00 6 5 45.45 ENSG00000234978 0 genome.wustl.edu 37 1 142803527 142803527 + RNA SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 142803527 142803527 A C SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.184 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier1 - - 834 0 0.00 547 35 6.01 ENSG00000242790 0 genome.wustl.edu 37 3 155011551 155011551 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 155011551 155011551 G A SNP ENSG00000242790 ENST00000470024 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-451G4.3 Clone_based_vega_gene ENSG00000242790 tier1 - - 11 0 0.00 10 5 33.33 ENSG00000268032 0 genome.wustl.edu 37 19 18142240 18142240 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 18142240 18142240 G A SNP ENSG00000268032 ENST00000594957 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CTB-52I2.4 Clone_based_vega_gene ENSG00000268032 tier1 - - 33 0 0.00 10 4 28.57 EPHA10 0 genome.wustl.edu 37 1 38219911 38219911 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 38219911 38219911 C T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.982 p.D328N 0.999 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 tier1 - - 160 0 0.00 149 15 9.15 EPHA8 0 genome.wustl.edu 37 1 22913120 22913120 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 22913120 22913120 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.971 p.A324V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 tier1 - - 89 0 0.00 69 4 5.48 ERC2 0 genome.wustl.edu 37 3 55543760 55543760 + RNA SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 55543760 55543760 T G SNP ERC2 ENST00000484530 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 47 0 0.00 34 8 19.05 ETV6 0 genome.wustl.edu 37 12 12022497 12022497 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 12022497 12022497 C T SNP ETV6 ENST00000396373 human ensembl 74_37 +1 known silent c.603 p.L201 0.914 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV6 HGNC ENSG00000139083 tier1 - - 22 0 0.00 23 7 23.33 EVPLL 0 genome.wustl.edu 37 17 18284967 18284967 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 18284967 18284967 C T SNP EVPLL ENST00000399134 human ensembl 74_37 +1 novel missense c.269 p.A90V 0.998 NULL NULL - no_errors EVPLL HGNC ENSG00000214860 66 0 0.00 40 4 9.09 EYA4 0 genome.wustl.edu 37 6 133595940 133595940 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 133595940 133595940 A C SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.22 p.N8H 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 tier1 - - 110 0 0.00 54 11 16.92 EYS 0 genome.wustl.edu 37 6 64430573 64430573 + Frame_Shift_Del DEL A A - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 64430573 64430573 A - DEL EYS ENST00000370616 human ensembl 74_37 -1 known frame_shift_del c.9417 p.Q3140fs 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 83 0 0.00 34 10 22.73 FAM120A 0 genome.wustl.edu 37 9 96324520 96324520 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 96324520 96324520 G T SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known silent c.3063 p.V1021 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 tier1 - - 89 0 0.00 72 4 5.26 FAM171A1 0 genome.wustl.edu 37 10 15325921 15325921 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 15325921 15325921 G A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.281 p.A94V 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 45 0 0.00 36 3 7.69 FAM26E 0 genome.wustl.edu 37 6 116833249 116833249 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 116833249 116833249 C T SNP FAM26E ENST00000368599 human ensembl 74_37 +1 known silent c.390 p.S130 0.847 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 tier1 - - 67 0 0.00 29 6 17.14 FAM90A1 0 genome.wustl.edu 37 12 8376111 8376111 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 8376111 8376111 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known silent c.366 p.S122 0.000 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 tier1 rs138311120 - 342 0 0.00 181 14 7.18 FASTKD1 0 genome.wustl.edu 37 2 170402728 170402728 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 170402728 170402728 C T SNP FASTKD1 ENST00000453153 human ensembl 74_37 -1 known silent c.1701 p.K567 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 tier1 - - 60 0 0.00 21 5 19.23 FCF1 0 genome.wustl.edu 37 14 75182772 75182772 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 75182772 75182772 C T SNP FCF1 ENST00000341162 human ensembl 74_37 +1 known nonsense c.262 p.Q88* 1.000 smart_PIN_dom pfam_Fcf1/Utp23,smart_PIN_dom - no_errors FCF1 HGNC ENSG00000119616 tier1 - - 26 0 0.00 23 4 14.81 FCHO1 0 genome.wustl.edu 37 19 17877516 17877516 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 17877516 17877516 C T SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.233 p.S78L 0.998 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 tier1 - - 50 0 0.00 29 10 25.64 FERMT3 0 genome.wustl.edu 37 11 63987724 63987724 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 63987724 63987724 G A SNP FERMT3 ENST00000279227 human ensembl 74_37 +1 known missense c.1249 p.G417S 0.943 pfam_FERM_central,pfam_Pleckstrin_homology,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT3 HGNC ENSG00000149781 tier1 rs150164798 - 24 0 0.00 17 4 19.05 FGF3 0 genome.wustl.edu 37 11 69625251 69625251 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 69625251 69625251 C T SNP FGF3 ENST00000334134 human ensembl 74_37 -1 known missense c.542 p.R181H 1.000 superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF3 HGNC ENSG00000186895 tier1 rs148203315 - 112 0 0.00 66 22 25.00 FLRT2 0 genome.wustl.edu 37 14 86089254 86089254 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 86089254 86089254 G T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1396 p.V466F 0.971 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 74 0 0.00 26 4 13.33 FMN2 0 genome.wustl.edu 37 1 240255871 240255871 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 240255871 240255871 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.462 p.V154 0.005 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 58 0 0.00 27 8 22.86 FREM1 0 genome.wustl.edu 37 9 14788929 14788929 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 14788929 14788929 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.4168 p.D1390N 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 tier1 - - 113 0 0.00 37 22 37.29 FRG1 0 genome.wustl.edu 37 4 190884267 190884267 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 190884267 190884267 G T SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.760 p.D254Y 1.000 pfam_FRG1 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 46 0 0.00 29 3 9.09 FRMD7 0 genome.wustl.edu 37 X 131233530 131233530 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 131233530 131233530 C T SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known silent c.171 p.L57 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 tier1 - - 88 0 0.00 47 4 7.84 FSCB 0 genome.wustl.edu 37 14 44974802 44974802 + Silent SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 44974802 44974802 T C SNP FSCB ENST00000340446 human ensembl 74_37 -1 known silent c.1389 p.K463 0.002 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 45 0 0.00 16 7 30.43 FSIP2 0 genome.wustl.edu 37 2 186672781 186672781 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 186672781 186672781 G A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.19015 p.E6339K 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 61 0 0.00 30 5 14.29 GALNT8 0 genome.wustl.edu 37 12 4923630 4923630 + RNA SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 4923630 4923630 T G SNP GALNT8 ENST00000541339 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GALNT8 HGNC ENSG00000130035 tier1 - - 42 0 0.00 24 8 25.00 GEMIN4 0 genome.wustl.edu 37 17 650986 650986 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 650986 650986 C T SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known silent c.297 p.S99 0.005 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 tier1 - - 50 0 0.00 31 16 34.04 GEN1 0 genome.wustl.edu 37 2 17955634 17955634 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 17955634 17955634 G T SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.1168 p.G390C 1.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 tier1 - - 84 0 0.00 56 4 6.67 GK5 0 genome.wustl.edu 37 3 141932411 141932411 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 141932411 141932411 G A SNP GK5 ENST00000392993 human ensembl 74_37 -1 known missense c.274 p.L92F 1.000 pfam_Carb_kinase_FGGY_N pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C - no_errors GK5 HGNC ENSG00000175066 tier1 - - 83 0 0.00 24 18 41.86 GPC2 0 genome.wustl.edu 37 7 99771554 99771554 + Frame_Shift_Del DEL C C - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 99771554 99771554 C 0 DEL GPC2 ENST00000292377 human ensembl 74_37 -1 known frame_shift_del c.796 p.V266fs 0.000 pfam_Glypican pfam_Glypican - no_errors GPC2 HGNC ENSG00000213420 129 0 0.00 113 6 5.04 GPR75-ASB3 0 genome.wustl.edu 37 2 53831861 53831861 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 53831861 53831861 G A SNP GPR75-ASB3 ENST00000490794 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors GPR75-ASB3 HGNC ENSG00000115239 tier1 - - 56 0 0.00 21 6 22.22 GREB1 0 genome.wustl.edu 37 2 11720943 11720943 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 11720943 11720943 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known nonsense c.886 p.R296* 0.061 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 67 0 0.00 28 7 20.00 GRIA2 0 genome.wustl.edu 37 4 158224713 158224713 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 158224713 158224713 A G SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.239 p.Q80R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 tier1 - - 68 0 0.00 37 24 39.34 GRM3 0 genome.wustl.edu 37 7 86415679 86415679 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 86415679 86415679 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.571 p.V191M 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 62 0 0.00 35 4 10.26 GSE1 0 genome.wustl.edu 37 16 85691066 85691066 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 85691066 85691066 C T SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.1496 p.A499V 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 - - 42 0 0.00 38 6 13.33 GTF3C3 0 genome.wustl.edu 37 2 197629382 197629382 + Nonsense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 197629382 197629382 G A SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known nonsense c.2566 p.R856* 0.993 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 tier1 - - 100 0 0.00 42 7 14.29 HDAC1 0 genome.wustl.edu 37 1 32782361 32782361 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 32782361 32782361 G A SNP HDAC1 ENST00000373548 human ensembl 74_37 +1 known silent c.258 p.E86 0.995 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 38 0 0.00 34 2 5.56 HIVEP3 0 genome.wustl.edu 37 1 42046256 42046256 + Silent SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 42046256 42046256 T G SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.4213 p.R1405 0.757 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 tier1 - - 27 0 0.00 16 8 33.33 HPS1 0 genome.wustl.edu 37 10 100195011 100195011 + RNA SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 100195011 100195011 C T SNP HPS1 ENST00000474873 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors HPS1 HGNC ENSG00000107521 tier1 - - 33 0 0.00 12 6 33.33 HR 0 genome.wustl.edu 37 8 21973915 21973915 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 21973915 21973915 G T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.3405 p.S1135R 0.931 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 tier1 - - 44 0 0.00 37 4 9.52 HTR3A 0 genome.wustl.edu 37 11 113853941 113853941 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 113853941 113853941 C T SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known silent c.492 p.S164 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 71 0 0.00 50 4 7.41 IFT74 0 genome.wustl.edu 37 9 27062674 27062674 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 27062674 27062674 G T SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known missense c.1743 p.K581N 0.993 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 tier1 - - 43 0 0.00 29 3 9.38 IL10RA 0 genome.wustl.edu 37 11 117859096 117859096 + Splice_Site SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 117859096 117859096 G T SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known splice_site c.68-1 e2-1 0.002 - - - no_errors IL10RA HGNC ENSG00000110324 tier1 - - 76 0 0.00 65 5 7.14 IL13RA1 0 genome.wustl.edu 37 X 117900499 117900499 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 117900499 117900499 G T SNP IL13RA1 ENST00000371666 human ensembl 74_37 +1 known nonsense c.835 p.E279* 0.213 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA1 HGNC ENSG00000131724 tier1 - - 78 0 0.00 63 4 5.97 IL22RA1 0 genome.wustl.edu 37 1 24465107 24465107 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 24465107 24465107 G T SNP IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel silent c.141 p.G47 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 tier1 - - 83 0 0.00 44 4 8.33 IL6ST 0 genome.wustl.edu 37 5 55259205 55259205 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 55259205 55259205 G T SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known missense c.788 p.T263N 0.207 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 tier1 - - 141 0 0.00 61 4 6.15 INSM2 0 genome.wustl.edu 37 14 36004316 36004316 + Silent SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 36004316 36004316 C A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.858 p.I286 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 86 0 0.00 44 3 6.38 ITGA3 0 genome.wustl.edu 37 17 48148781 48148781 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 48148781 48148781 G A SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known silent c.858 p.Q286 0.942 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 tier1 - - 21 0 0.00 14 8 36.36 KCNA4 0 genome.wustl.edu 37 11 30033455 30033455 + Missense_Mutation SNP C C G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 30033455 30033455 C G SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.771 p.K257N 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 tier1 - - 54 0 0.00 22 8 26.67 KCNG4 0 genome.wustl.edu 37 16 84255965 84255965 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 84255965 84255965 G A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.1418 p.A473V 0.951 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 tier1 - - 66 0 0.00 62 4 6.06 KCNS2 0 genome.wustl.edu 37 8 99441400 99441400 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 99441400 99441400 G A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.1193 p.G398D 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv2 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 27 0 0.00 9 2 18.18 KDM3A 0 genome.wustl.edu 37 2 86716782 86716782 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 86716782 86716782 G T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.3573 p.K1191N 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 tier1 - - 44 0 0.00 21 3 12.50 KDM4E 0 genome.wustl.edu 37 11 94758839 94758839 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 94758839 94758839 G T SNP KDM4E ENST00000450979 human ensembl 74_37 +1 known missense c.118 p.A40S 0.986 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 51 0 0.00 32 2 5.88 KDM5A 0 genome.wustl.edu 37 12 419113 419113 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 419113 419113 G A SNP KDM5A ENST00000399788 human ensembl 74_37 -1 known silent c.3234 p.T1078 0.999 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 tier1 - - 89 0 0.00 46 17 26.98 KIAA1147 0 genome.wustl.edu 37 7 141365000 141365000 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 141365000 141365000 C T SNP KIAA1147 ENST00000536163 human ensembl 74_37 -1 known silent c.939 p.V313 1.000 pfam_DUF2347 pfam_DUF2347 - no_errors KIAA1147 HGNC ENSG00000257093 tier1 - - 61 0 0.00 30 16 34.78 KIAA1244 0 genome.wustl.edu 37 6 138607928 138607928 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 138607928 138607928 G T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.2660 p.S887I 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 70 0 0.00 54 3 5.26 KIAA1755 0 genome.wustl.edu 37 20 36869864 36869864 + Silent SNP T T A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 20 36869864 36869864 T A SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known silent c.669 p.P223 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 60 0 0.00 64 4 5.88 KIF16B 0 genome.wustl.edu 37 20 16407773 16407773 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 20 16407773 16407773 C T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.1588 p.V530M 0.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 86 0 0.00 39 3 7.14 KIF24 0 genome.wustl.edu 37 9 34256881 34256881 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 34256881 34256881 G T SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.2724 p.H908Q 0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 32 0 0.00 32 4 11.11 KIF2A 0 genome.wustl.edu 37 5 61657076 61657076 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 61657076 61657076 G T SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known missense c.880 p.A294S 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 tier1 - - 76 0 0.00 49 4 7.55 KIF5A 0 genome.wustl.edu 37 12 57957931 57957931 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 57957931 57957931 G T SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.332 p.R111L 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom 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 37 0 0.00 16 2 11.11 KLF8 0 genome.wustl.edu 37 X 56291946 56291946 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 56291946 56291946 C A SNP KLF8 ENST00000468660 human ensembl 74_37 +1 known missense c.415 p.L139M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 tier1 - - 28 0 0.00 5 19 79.17 KLHL13 0 genome.wustl.edu 37 X 117033206 117033206 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 117033206 117033206 A C SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known missense c.1642 p.F548V 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 KLHL13 HGNC ENSG00000003096 tier1 - - 54 0 0.00 18 23 56.10 KNTC1 0 genome.wustl.edu 37 12 123072328 123072328 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 123072328 123072328 G T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.3801 p.Q1267H 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 92 0 0.00 68 4 5.56 KRT23 0 genome.wustl.edu 37 17 39081761 39081761 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 39081761 39081761 C T SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.987 p.M329I 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 50 0 0.00 37 3 7.50 KRT6C 0 genome.wustl.edu 37 12 52865895 52865895 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 52865895 52865895 G A SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.710 p.S237L 0.638 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 tier1 - - 108 0 0.00 37 19 33.93 L1CAM 0 genome.wustl.edu 37 X 153134086 153134086 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 153134086 153134086 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.1482 p.T494 0.012 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 tier1 rs150805225 - 15 0 0.00 11 8 42.11 LENG8 0 genome.wustl.edu 37 19 54963327 54963327 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 54963327 54963327 G T SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known silent c.96 p.P32 0.973 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 tier1 - - 90 0 0.00 70 4 5.41 LINC00693 0 genome.wustl.edu 37 3 28617801 28617801 + RNA SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 28617801 28617801 T C SNP LINC00693 ENST00000432518 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00693 HGNC ENSG00000228214 tier1 - - 53 0 0.00 41 28 40.58 LINC00710 0 genome.wustl.edu 37 10 10988556 10988556 + RNA SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 10988556 10988556 T G SNP LINC00710 ENST00000428520 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00710 HGNC ENSG00000229240 86 0 0.00 71 4 5.33 LIPH 0 genome.wustl.edu 37 3 185237010 185237010 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 185237010 185237010 G T SNP LIPH ENST00000296252 human ensembl 74_37 -1 known missense c.806 p.P269H 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC ENSG00000163898 tier1 - - 57 0 0.00 54 4 6.90 LOC101927810 0 genome.wustl.edu 37 12 66275757 66275757 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 66275757 66275757 G T SNP LOC101927810 ENST00000439236 human ensembl 74_37 -1 putative missense c.8 p.T3K 0.000 NULL NULL - no_errors RP11-366L20.2 Clone_based_vega_gene ENSG00000197301 tier1 - - 20 0 0.00 11 3 21.43 LOC101927911 0 genome.wustl.edu 37 17 2865945 2865945 + RNA SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 2865945 2865945 G T SNP LOC101927911 ENST00000574885 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors CTD-3060P21.1 Clone_based_vega_gene ENSG00000262884 tier1 - - 69 0 0.00 54 4 6.90 LOC645188 0 genome.wustl.edu 37 X 140714833 140714833 + RNA SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 140714833 140714833 T C SNP LOC645188 ENST00000412163 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-171K16.5 Clone_based_vega_gene ENSG00000223438 15 0 0.00 4 3 42.86 LPHN2 0 genome.wustl.edu 37 1 82452943 82452943 + Splice_Site SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 82452943 82452943 G A SNP LPHN2 ENST00000472424 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 76 0 0.00 37 22 37.29 LRP1B 0 genome.wustl.edu 37 2 141202169 141202169 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 141202169 141202169 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10137 p.E3379D 0.966 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 40 0 0.00 20 4 16.67 LRP1B 0 genome.wustl.edu 37 2 141660604 141660604 + Silent SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 141660604 141660604 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.3651 p.Y1217 0.808 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 36 0 0.00 33 11 25.00 LRRC40 0 genome.wustl.edu 37 1 70616844 70616844 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 70616844 70616844 A G SNP LRRC40 ENST00000370952 human ensembl 74_37 -1 known missense c.1484 p.V495A 0.451 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC40 HGNC ENSG00000066557 tier1 - - 61 0 0.00 56 7 11.11 LRRC9 0 genome.wustl.edu 37 14 60483410 60483410 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 60483410 60483410 G T SNP LRRC9 ENST00000254271 human ensembl 74_37 +1 known missense c.3219 p.L1073F 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC ENSG00000131951 tier1 - - 85 0 0.00 30 12 28.57 LRRTM4 0 genome.wustl.edu 37 2 77745909 77745909 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 77745909 77745909 T G SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.1089 p.E363D 0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 26 0 0.00 9 8 47.06 MAB21L1 0 genome.wustl.edu 37 13 36050159 36050159 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 13 36050159 36050159 G A SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known silent c.117 p.S39 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 tier1 - - 44 0 0.00 17 11 39.29 MAGEB5 0 genome.wustl.edu 37 X 26235727 26235727 + Silent SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 26235727 26235727 T G SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known silent c.309 p.T103 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 21 0 0.00 9 8 47.06 MAGEC3 0 genome.wustl.edu 37 X 140983147 140983147 + Silent SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 140983147 140983147 A G SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known silent c.1002 p.G334 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 67 0 0.00 44 6 12.00 MAGEH1 0 genome.wustl.edu 37 X 55479467 55479467 + Silent SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 55479467 55479467 A G SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known silent c.660 p.*220 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 tier1 - - 34 0 0.00 13 6 31.58 MAML3 0 genome.wustl.edu 37 4 140811069 140811069 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 140811069 140811069 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1521 p.Q507 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 24 0 0.00 17 4 19.05 MAN2A2 0 genome.wustl.edu 37 15 91456129 91456129 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 91456129 91456129 C T SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.2492 p.P831L 0.998 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 tier1 - - 43 0 0.00 13 11 45.83 MANBA 0 genome.wustl.edu 37 4 103578863 103578863 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 103578863 103578863 C T SNP MANBA ENST00000226578 human ensembl 74_37 -1 known nonsense c.1680 p.W560* 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 70 0 0.00 19 3 13.64 MAP2 0 genome.wustl.edu 37 2 210570439 210570439 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 210570439 210570439 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.4720 p.R1574W 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 40 0 0.00 20 6 23.08 MAP4K4 0 genome.wustl.edu 37 2 102448250 102448250 + Silent SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 102448250 102448250 C A SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known silent c.576 p.P192 0.039 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_Citron,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 MAP4K4 HGNC ENSG00000071054 tier1 - - 126 0 0.00 59 4 6.35 MARVELD3 0 genome.wustl.edu 37 16 71660355 71660355 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 71660355 71660355 C T SNP MARVELD3 ENST00000299952 human ensembl 74_37 +1 known missense c.223 p.R75W 0.086 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 tier1 - - 42 0 0.00 15 6 28.57 MEG3 0 genome.wustl.edu 37 14 101327163 101327163 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 101327163 101327163 G A SNP MEG3 ENST00000398460 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 49 0 0.00 17 7 29.17 MEPE 0 genome.wustl.edu 37 4 88766811 88766811 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 88766811 88766811 A G SNP MEPE ENST00000361056 human ensembl 74_37 +1 known missense c.791 p.D264G 0.907 NULL pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 tier1 - - 28 0 0.00 9 7 43.75 MGA 0 genome.wustl.edu 37 15 42042415 42042415 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 42042415 42042415 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known nonsense c.6610 p.E2204* 0.008 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 66 0 0.00 28 2 6.67 MICALCL 0 genome.wustl.edu 37 11 12315442 12315442 + Frame_Shift_Del DEL A A - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 12315442 12315442 A - DEL MICALCL ENST00000256186 human ensembl 74_37 +1 known frame_shift_del c.464 p.S158fs 0.000 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 tier1 38 0 0.00 28 2 6.67 MIR335 0 genome.wustl.edu 37 7 130135888 130135888 + RNA SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 130135888 130135888 G T SNP MIR335 ENST00000604666 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors hsa-mir-335 miRBase ENSG00000270823 tier1 - - 47 0 0.00 22 4 15.38 MKI67 0 genome.wustl.edu 37 10 129905112 129905113 + Frame_Shift_Del DEL TG TG - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 129905112 129905113 TG - DEL MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_del c.4992_4991 p.T1664fs 0.000:0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 60 0 0.00 115 13 10.16 MMP16 0 genome.wustl.edu 37 8 89086899 89086899 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 89086899 89086899 G A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1156 p.R386W 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 78 0 0.00 45 19 29.69 MOCS1 0 genome.wustl.edu 37 6 39880681 39880681 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 39880681 39880681 C T SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known nonsense c.825 p.W275* 1.000 pfam_Mob_synth_C,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 31 0 0.00 38 4 9.52 MPDZ 0 genome.wustl.edu 37 9 13110012 13110012 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 13110012 13110012 C A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.5881 p.A1961S 0.005 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 50 0 0.00 38 2 5.00 MROH9 0 genome.wustl.edu 37 1 170993634 170993634 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 170993634 170993634 A C SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known missense c.2007 p.E669D 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 101 0 0.00 65 18 21.69 MUC12 0 genome.wustl.edu 37 7 100647092 100647092 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 100647092 100647092 G A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known silent c.13248 p.P4416 0.000 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 334 0 0.00 245 24 8.92 MUC19 0 genome.wustl.edu 37 12 40918475 40918475 + RNA SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 40918475 40918475 A C SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.346 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 19 0 0.00 12 4 25.00 MUC19 0 genome.wustl.edu 37 12 40919205 40919205 + RNA SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 40919205 40919205 A G SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 134 0 0.00 62 18 22.50 MUC19 0 genome.wustl.edu 37 12 40925451 40925451 + RNA SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 40925451 40925451 T G SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 24 0 0.00 11 4 26.67 MXRA5 0 genome.wustl.edu 37 X 3242385 3242385 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 3242385 3242385 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.1341 p.T447 0.022 NULL 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 - - 24 0 0.00 7 7 50.00 MXRA5 0 genome.wustl.edu 37 X 3235678 3235678 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 3235678 3235678 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.6044 p.A2015V 0.221 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 41 0 0.00 37 4 9.76 MYH10 0 genome.wustl.edu 37 17 8409731 8409731 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 8409731 8409731 G T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.3261 p.D1087E 1.000 superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 tier1 - - 76 0 0.00 47 4 7.84 MYH2 0 genome.wustl.edu 37 17 10432983 10432983 + Silent SNP G G C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 10432983 10432983 G C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.3015 p.L1005 1.000 superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 64 0 0.00 77 17 18.09 NACAD 0 genome.wustl.edu 37 7 45120588 45120588 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 45120588 45120588 C A SNP NACAD ENST00000490531 human ensembl 74_37 -1 known missense c.4438 p.A1480S 1.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACAD HGNC ENSG00000136274 30 0 0.00 35 3 7.89 NAV1 0 genome.wustl.edu 37 1 201618242 201618242 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 201618242 201618242 C A SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.446 p.A149D 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 46 0 0.00 32 7 17.95 NBAS 0 genome.wustl.edu 37 2 15555674 15555674 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 15555674 15555674 G T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.2933 p.P978Q 1.000 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 - - 165 0 0.00 83 5 5.68 NCK2 0 genome.wustl.edu 37 2 106471533 106471533 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 106471533 106471533 T G SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known missense c.14 p.V5G 0.999 superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 tier1 - - 63 0 0.00 34 10 22.73 NCOR2 0 genome.wustl.edu 37 12 124887093 124887094 + In_Frame_Ins INS - - TGT TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 124887093 124887094 - TGT INS NCOR2 ENST00000356219 human ensembl 74_37 -1 known in_frame_ins c.1497_1496 p.503in_frame_insQ 0.999:0.999 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 26 0 0.00 17 2 10.53 NEFH 0 genome.wustl.edu 37 22 29879382 29879382 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 22 29879382 29879382 C T SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.902 p.S301L 0.998 pfam_IF pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 tier1 - - 26 0 0.00 15 6 28.57 NEIL1 0 genome.wustl.edu 37 15 75646605 75646605 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 75646605 75646605 G A SNP NEIL1 ENST00000355059 human ensembl 74_37 +1 known silent c.861 p.P287 0.124 pfam_Endonuclease-VIII_DNA-bd pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 tier1 - - 84 0 0.00 44 4 8.33 NLGN1 0 genome.wustl.edu 37 3 173997426 173997426 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 173997426 173997426 T G SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1755 p.N585K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 31 0 0.00 25 9 26.47 NLGN3 0 genome.wustl.edu 37 X 70373312 70373312 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 70373312 70373312 G A SNP NLGN3 ENST00000476589 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NLGN3 HGNC ENSG00000196338 tier1 - - 69 0 0.00 12 18 60.00 NLRP14 0 genome.wustl.edu 37 11 7059855 7059855 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 7059855 7059855 T G SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.38 p.F13C 0.989 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP14 HGNC ENSG00000158077 tier1 - - 55 0 0.00 39 17 30.36 NLRP4 0 genome.wustl.edu 37 19 56382310 56382310 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 56382310 56382310 G A SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.2472 p.L824 0.004 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 44 0 0.00 14 3 17.65 NOP14 0 genome.wustl.edu 37 4 2956249 2956249 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 2956249 2956249 G T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.514 p.L172I 0.997 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 tier1 - - 52 0 0.00 30 4 11.76 NOTCH1 0 genome.wustl.edu 37 9 139391546 139391546 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 139391546 139391546 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.6645 p.S2215 0.044 pirsf_Notch,prints_Notch_1 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 39 0 0.00 28 14 33.33 NOTCH1 0 genome.wustl.edu 37 9 139412280 139412280 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 139412280 139412280 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.1365 p.E455 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 54 0 0.00 15 10 38.46 NPFF 0 genome.wustl.edu 37 12 53901175 53901175 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 53901175 53901175 C T SNP NPFF ENST00000267017 human ensembl 74_37 -1 known silent c.84 p.Q28 0.000 pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide - no_errors NPFF HGNC ENSG00000139574 tier1 - - 52 0 0.00 17 5 22.73 NPY5R 0 genome.wustl.edu 37 4 164272519 164272519 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 164272519 164272519 G T SNP NPY5R ENST00000338566 human ensembl 74_37 +1 known missense c.1094 p.S365I 0.994 pfam_GPCR_Rhodpsn,prints_NPY5_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors NPY5R HGNC ENSG00000164129 51 0 0.00 41 3 6.82 NRG1 0 genome.wustl.edu 37 8 32616855 32616855 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 32616855 32616855 A G SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.986 p.E329G 1.000 pfam_Neuregulin_1_C,prints_Neuregulin pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 73 0 0.00 68 6 8.11 OBSCN 0 genome.wustl.edu 37 1 228548224 228548224 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 228548224 228548224 T G SNP OBSCN ENST00000366709 human ensembl 74_37 +1 known missense c.10988 p.V3663G 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,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,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 29 0 0.00 16 10 38.46 ODF1 0 genome.wustl.edu 37 8 103572944 103572944 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 103572944 103572944 T G SNP ODF1 ENST00000285402 human ensembl 74_37 +1 known missense c.585 p.C195W 0.387 pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC ENSG00000155087 tier1 - - 66 0 0.00 28 16 36.36 OGDH 0 genome.wustl.edu 37 7 44695934 44695934 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 44695934 44695934 G T SNP OGDH ENST00000543843 human ensembl 74_37 +1 known nonsense c.343 p.E115* 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 tier1 - - 79 0 0.00 42 4 8.70 OR1A1 0 genome.wustl.edu 37 17 3119716 3119716 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 3119716 3119716 A C SNP OR1A1 ENST00000304094 human ensembl 74_37 +1 known missense c.802 p.K268Q 0.014 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A1 HGNC ENSG00000172146 tier1 - - 52 0 0.00 26 11 29.73 OR1L4 0 genome.wustl.edu 37 9 125486279 125486279 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 125486279 125486279 A G SNP OR1L4 ENST00000259466 human ensembl 74_37 +1 known missense c.11 p.K4R 0.026 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L4 HGNC ENSG00000136939 tier1 - - 66 0 0.00 61 13 17.57 OR1L6 0 genome.wustl.edu 37 9 125512401 125512401 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 125512401 125512401 T G SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known missense c.383 p.V128G 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L6 HGNC ENSG00000171459 tier1 - - 63 0 0.00 40 26 39.39 OR1N2 0 genome.wustl.edu 37 9 125316158 125316158 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 125316158 125316158 G A SNP OR1N2 ENST00000373688 human ensembl 74_37 +1 known missense c.710 p.R237H 0.000 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 OR1N2 HGNC ENSG00000171501 tier1 - - 26 0 0.00 36 4 10.00 OR4C12 0 genome.wustl.edu 37 11 50003189 50003189 + Silent SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 50003189 50003189 C A SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known silent c.849 p.V283 0.979 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 38 0 0.00 37 2 5.13 OR4C16 0 genome.wustl.edu 37 11 55340184 55340184 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 55340184 55340184 A C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.581 p.N194T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 73 0 0.00 47 16 25.40 OR4C46 0 genome.wustl.edu 37 11 51515472 51515472 + Missense_Mutation SNP T T A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 51515472 51515472 T A SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.191 p.L64H 0.285 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 tier1 - - 50 0 0.00 31 16 33.33 OR4K2 0 genome.wustl.edu 37 14 20344520 20344520 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 20344520 20344520 T G SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known missense c.94 p.S32A 0.989 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 tier1 - - 75 0 0.00 45 16 26.23 OR4Q3 0 genome.wustl.edu 37 14 20216438 20216438 + Frame_Shift_Del DEL C C - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 20216438 20216438 C - DEL OR4Q3 ENST00000331723 human ensembl 74_37 +1 known frame_shift_del c.852 p.L286fs 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 tier1 20 0 0.00 18 3 14.29 OR5J2 0 genome.wustl.edu 37 11 55944875 55944875 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 55944875 55944875 A G SNP OR5J2 ENST00000312298 human ensembl 74_37 +1 known missense c.782 p.Q261R 0.021 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR5J2 HGNC ENSG00000174957 tier1 - - 50 0 0.00 28 10 26.32 OR5T3 0 genome.wustl.edu 37 11 56020501 56020501 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 56020501 56020501 A C SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.826 p.T276P 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 tier1 - - 71 0 0.00 42 12 22.22 OR8H3 0 genome.wustl.edu 37 11 55889885 55889885 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 55889885 55889885 T G SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.37 p.F13V 0.990 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 tier1 - - 92 0 0.00 57 16 21.92 ORC2 0 genome.wustl.edu 37 2 201778130 201778130 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 201778130 201778130 G T SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known missense c.1535 p.S512Y 1.000 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 55 0 0.00 25 2 7.41 PAK6 0 genome.wustl.edu 37 15 40558217 40558217 + Missense_Mutation SNP G G C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 40558217 40558217 G C SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.379 p.D127H 0.991 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 tier1 - - 80 0 0.00 29 4 12.12 PAPPA2 0 genome.wustl.edu 37 1 176526097 176526097 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 176526097 176526097 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.639 p.S213 0.000 superfamily_ConA-like_lec_gl_sf pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 25 0 0.00 3 4 57.14 PCDH20 0 genome.wustl.edu 37 13 61986010 61986010 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 13 61986010 61986010 A G SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2222 p.L741P 0.990 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 20 0 0.00 11 5 31.25 PCDH7 0 genome.wustl.edu 37 4 30723471 30723471 + Frame_Shift_Del DEL T T - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 30723471 30723471 T - DEL PCDH7 ENST00000543491 human ensembl 74_37 +1 known frame_shift_del c.427 p.F143fs 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 tier1 56 0 0.00 18 2 10.00 PCDHA4 0 genome.wustl.edu 37 5 140188701 140188701 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 140188701 140188701 G T SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1929 p.P643 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 67 0 0.00 49 3 5.77 PCDHB10 0 genome.wustl.edu 37 5 140572811 140572811 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 140572811 140572811 G A SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.686 p.R229H 0.000 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 PCDHB10 HGNC ENSG00000120324 70 0 0.00 22 3 12.00 PDE10A 0 genome.wustl.edu 37 6 165844941 165844941 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 165844941 165844941 G A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.713 p.A238V 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 tier1 - - 120 0 0.00 45 9 16.67 PDE6H 0 genome.wustl.edu 37 12 15131010 15131010 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 15131010 15131010 G T SNP PDE6H ENST00000266395 human ensembl 74_37 +1 known missense c.64 p.G22C 1.000 pfam_PDE6_gamma,pirsf_PDE6_gamma pfam_PDE6_gamma,pirsf_PDE6_gamma - no_errors PDE6H HGNC ENSG00000139053 tier1 - - 56 0 0.00 46 4 8.00 PDX1 0 genome.wustl.edu 37 13 28498435 28498435 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 13 28498435 28498435 G A SNP PDX1 ENST00000381033 human ensembl 74_37 +1 known missense c.449 p.R150H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors PDX1 HGNC ENSG00000139515 tier1 - - 49 0 0.00 16 4 19.05 PDZD8 0 genome.wustl.edu 37 10 119043842 119043842 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 119043842 119043842 G T SNP PDZD8 ENST00000334464 human ensembl 74_37 -1 known nonsense c.2402 p.S801* 0.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 tier1 - - 25 0 0.00 18 4 18.18 PEG3 0 genome.wustl.edu 37 19 57325595 57325595 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 57325595 57325595 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4215 p.E1405D 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 67 0 0.00 38 13 25.49 PER2 0 genome.wustl.edu 37 2 239162260 239162260 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 239162260 239162260 C T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.2404 p.V802I 0.984 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 tier1 - - 54 0 0.00 38 17 30.91 PFKFB3 0 genome.wustl.edu 37 10 6261588 6261588 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 6261588 6261588 C T SNP PFKFB3 ENST00000536985 human ensembl 74_37 +1 known missense c.545 p.T182M 0.938 NULL pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 tier1 - - 68 0 0.00 43 4 8.51 PFKFB3 0 genome.wustl.edu 37 10 6258137 6258137 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 6258137 6258137 G T SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known nonsense c.391 p.E131* 1.000 pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 71 0 0.00 32 3 8.57 PGM5 0 genome.wustl.edu 37 9 71114230 71114230 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 71114230 71114230 G A SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.1567 p.A523T 1.000 NULL pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 tier1 - - 32 0 0.00 26 5 16.13 PLA2R1 0 genome.wustl.edu 37 2 160901437 160901437 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 160901437 160901437 C A SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.341 p.R114L 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 tier1 - - 51 0 0.00 16 3 15.79 PLA2R1 0 genome.wustl.edu 37 2 160918876 160918878 + In_Frame_Del DEL CAG CAG - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 160918876 160918878 CAG - DEL PLA2R1 ENST00000283243 human ensembl 74_37 -1 known in_frame_del c.39_37 p.L13in_frame_del 0.922:0.939:0.961 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 tier1 41 0 0.00 25 3 10.71 PLCD3 0 genome.wustl.edu 37 17 43192556 43192556 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 43192556 43192556 C T SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.1616 p.R539H 0.997 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 tier1 rs199969953 - 75 0 0.00 61 10 14.08 PLCL1 0 genome.wustl.edu 37 2 198948610 198948610 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 198948610 198948610 A C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.369 p.K123N 0.986 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_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 PLCL1 HGNC ENSG00000115896 tier1 - - 72 0 0.00 45 8 15.09 PLGLB1 0 genome.wustl.edu 37 2 87240111 87240111 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 87240111 87240111 G A SNP PLGLB1 ENST00000478636 human ensembl 74_37 -1 known rna NULL NULL 0.157 - - - no_errors PLGLB1 HGNC ENSG00000183281 tier1 - - 371 0 0.00 160 30 15.71 PML 0 genome.wustl.edu 37 15 74335355 74335355 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 74335355 74335355 G T SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.1736 p.S579I 1.000 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 35 0 0.00 22 3 12.00 PNOC 0 genome.wustl.edu 37 8 28196758 28196758 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 28196758 28196758 G A SNP PNOC ENST00000301908 human ensembl 74_37 +1 known missense c.328 p.E110K 0.003 NULL pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept - no_errors PNOC HGNC ENSG00000168081 tier1 - - 40 0 0.00 34 7 17.07 PNPLA7 0 genome.wustl.edu 37 9 140355171 140355171 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 140355171 140355171 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.3860 p.T1287M 0.985 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 27 0 0.00 15 8 34.78 PPARGC1A 0 genome.wustl.edu 37 4 23815507 23815507 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 23815507 23815507 C T SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known silent c.1599 p.L533 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 tier1 - - 31 0 0.00 12 3 20.00 PPFIA2 0 genome.wustl.edu 37 12 81657028 81657028 + Missense_Mutation SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 81657028 81657028 T C SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3697 p.R1233G 0.988 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 65 0 0.00 39 5 11.36 PPP1CA 0 genome.wustl.edu 37 11 67165845 67165845 + RNA SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 67165845 67165845 G A SNP PPP1CA ENST00000532446 human ensembl 74_37 -1 known rna NULL NULL 0.672 - - - no_errors PPP1CA HGNC ENSG00000172531 tier1 - - 33 0 0.00 21 6 22.22 PPP1R3G 0 genome.wustl.edu 37 6 5085802 5085802 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 5085802 5085802 C T SNP PPP1R3G ENST00000405617 human ensembl 74_37 +1 novel missense c.83 p.P28L 0.002 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3G HGNC ENSG00000219607 tier1 - - 38 0 0.00 17 3 15.00 PRAMEF6 0 genome.wustl.edu 37 1 13111518 13111518 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 13111518 13111518 C T SNP PRAMEF6 ENST00000376182 human ensembl 74_37 -1 known missense c.497 p.C166Y 0.001 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 8 0 0.00 1 2 66.67 PRKCD 0 genome.wustl.edu 37 3 53221364 53221364 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 53221364 53221364 C T SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.1361 p.A454V 0.392 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 tier1 - - 64 0 0.00 65 4 5.80 PRSS36 0 genome.wustl.edu 37 16 31160456 31160456 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 31160456 31160456 G T SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known missense c.210 p.H70Q 0.967 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 35 0 0.00 34 3 8.11 PRSS37 0 genome.wustl.edu 37 7 141537835 141537835 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 141537835 141537835 G T SNP PRSS37 ENST00000350549 human ensembl 74_37 -1 known silent c.255 p.I85 0.280 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS37 HGNC ENSG00000165076 53 0 0.00 38 2 5.00 RAB39A 0 genome.wustl.edu 37 11 107832695 107832695 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 107832695 107832695 G T SNP RAB39A ENST00000320578 human ensembl 74_37 +1 known missense c.251 p.R84L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB39A HGNC ENSG00000179331 56 0 0.00 42 3 6.67 RABEP2 0 genome.wustl.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 28931200 28931202 CTG - DEL RABEP2 ENST00000358201 human ensembl 74_37 -1 known in_frame_del c.339_337 p.Q113in_frame_del 1.000:1.000:1.000 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 tier1 54 0 0.00 38 4 9.52 RAD50 0 genome.wustl.edu 37 5 131893062 131893062 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 131893062 131893062 G T SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known nonsense c.46 p.G16* 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 tier1 - - 82 0 0.00 45 4 8.16 RASGRF1 0 genome.wustl.edu 37 15 79291088 79291088 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 79291088 79291088 G A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.2874 p.L958 0.986 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N 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 RASGRF1 HGNC ENSG00000058335 tier1 - - 68 0 0.00 21 19 47.50 RBMXL3 0 genome.wustl.edu 37 X 114425602 114425602 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 114425602 114425602 G T SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.1598 p.G533V 0.602 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 118 0 0.00 67 4 5.63 RBPJ 0 genome.wustl.edu 37 4 26417097 26417098 + Frame_Shift_Ins INS - - T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 26417097 26417098 0 T INS RBPJ ENST00000342295 human ensembl 74_37 +1 known frame_shift_ins c.195_196 p.C67fs 1.000:1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 28 0 0.00 11 5 31.25 RBPJL 0 genome.wustl.edu 37 20 43945540 43945540 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 20 43945540 43945540 C A SNP RBPJL ENST00000343694 human ensembl 74_37 +1 known missense c.1495 p.L499M 0.377 NULL pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 10 0 0.00 16 8 33.33 RER1 0 genome.wustl.edu 37 1 2332324 2332324 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 2332324 2332324 G T SNP RER1 ENST00000488353 human ensembl 74_37 +1 known missense c.315 p.Q105H 1.000 pfam_Rer1,pirsf_Rer1 pfam_Rer1,pirsf_Rer1 - no_errors RER1 HGNC ENSG00000157916 139 0 0.00 62 4 6.06 RGPD4 0 genome.wustl.edu 37 2 108487761 108487761 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 108487761 108487761 C T SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known nonsense c.3301 p.R1101* 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 146 0 0.00 82 49 37.40 RIMKLB 0 genome.wustl.edu 37 12 8925956 8925956 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 8925956 8925956 A G SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.737 p.K246R 1.000 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 tier1 - - 39 0 0.00 26 6 18.75 RINT1 0 genome.wustl.edu 37 7 105189088 105189088 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 105189088 105189088 G A SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.927 p.M309I 1.000 pfam_RINT1_TIP1 pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 tier1 - - 43 0 0.00 36 4 10.00 RNF17 0 genome.wustl.edu 37 13 25436917 25436917 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 13 25436917 25436917 G T SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.3961 p.D1321Y 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 196 0 0.00 76 4 5.00 RRBP1 0 genome.wustl.edu 37 20 17641080 17641080 + Missense_Mutation SNP T T A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 20 17641080 17641080 T A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.73 p.I25F 1.000 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 - - 68 0 0.00 31 29 48.33 RYR2 0 genome.wustl.edu 37 1 237550622 237550622 + Silent SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 237550622 237550622 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.612 p.A204 0.990 pfam_Ins145_P3_rcpt,smart_MIR_motif 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 - - 28 0 0.00 13 7 35.00 SARDH 0 genome.wustl.edu 37 9 136536709 136536709 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 136536709 136536709 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.2274 p.H758 0.964 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 tier1 - - 90 0 0.00 54 11 16.92 SCGB2A2 0 genome.wustl.edu 37 11 62038514 62038514 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 62038514 62038514 A C SNP SCGB2A2 ENST00000227918 human ensembl 74_37 +1 known missense c.217 p.T73P 0.005 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB2A2 HGNC ENSG00000110484 tier1 - - 86 0 0.00 48 5 9.43 SCN5A 0 genome.wustl.edu 37 3 38629045 38629045 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 38629045 38629045 G T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.2282 p.T761K 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 68 0 0.00 46 4 8.00 SEMA5A 0 genome.wustl.edu 37 5 9197360 9197360 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 9197360 9197360 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.988 p.A330T 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 104 0 0.00 57 4 6.56 SENP6 0 genome.wustl.edu 37 6 76386937 76386937 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 76386937 76386937 G A SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.1813 p.G605R 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 tier1 - - 225 0 0.00 76 55 41.98 SET 0 genome.wustl.edu 37 9 131455936 131455936 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 131455936 131455936 G T SNP SET ENST00000372692 human ensembl 74_37 +1 known missense c.551 p.S184I 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC ENSG00000119335 50 0 0.00 25 2 7.41 SIK3 0 genome.wustl.edu 37 11 116732947 116732947 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 116732947 116732947 G T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.2056 p.H686N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 tier1 - - 92 0 0.00 57 4 6.35 SIRT1 0 genome.wustl.edu 37 10 69676139 69676139 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 69676139 69676139 G A SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.2033 p.G678E 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 tier1 - - 77 0 0.00 53 4 7.02 SKIDA1 0 genome.wustl.edu 37 10 21806551 21806551 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 21806551 21806551 G T SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known silent c.201 p.L67 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 tier1 - - 41 0 0.00 57 4 6.56 SKIDA1 0 genome.wustl.edu 37 10 21804409 21804409 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 21804409 21804409 G A SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known silent c.2343 p.Y781 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 63 0 0.00 50 3 5.66 SLC10A2 0 genome.wustl.edu 37 13 103718237 103718237 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 13 103718237 103718237 G T SNP SLC10A2 ENST00000245312 human ensembl 74_37 -1 known silent c.363 p.G121 0.008 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A2 HGNC ENSG00000125255 41 0 0.00 23 2 8.00 SLC22A7 0 genome.wustl.edu 37 6 43270095 43270095 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 43270095 43270095 G T SNP SLC22A7 ENST00000372585 human ensembl 74_37 +1 known missense c.1219 p.A407S 0.123 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 tier1 - - 40 0 0.00 46 4 8.00 SLC23A2 0 genome.wustl.edu 37 20 4854675 4854675 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 20 4854675 4854675 G T SNP SLC23A2 ENST00000338244 human ensembl 74_37 -1 known missense c.1009 p.P337T 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 tier1 - - 57 0 0.00 55 5 8.33 SLC26A8 0 genome.wustl.edu 37 6 35965589 35965589 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 35965589 35965589 G A SNP SLC26A8 ENST00000355574 human ensembl 74_37 -1 known missense c.553 p.P185S 0.001 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A8 HGNC ENSG00000112053 tier1 - - 120 0 0.00 78 8 9.30 SLC30A2 0 genome.wustl.edu 37 1 26365782 26365782 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 26365782 26365782 C A SNP SLC30A2 ENST00000374276 human ensembl 74_37 -1 known missense c.988 p.A330S 0.795 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC ENSG00000158014 32 0 0.00 17 3 15.00 SLC6A14 0 genome.wustl.edu 37 X 115585609 115585609 + Splice_Site SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 115585609 115585609 G A SNP SLC6A14 ENST00000371900 human ensembl 74_37 +1 known splice_site c.1404+1 e10+1 1.000 - - - no_errors SLC6A14 HGNC ENSG00000087916 tier1 - - 43 0 0.00 37 4 9.76 SLC6A2 0 genome.wustl.edu 37 16 55731829 55731829 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 55731829 55731829 C T SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known silent c.1281 p.V427 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 59 0 0.00 27 3 10.00 SLCO3A1 0 genome.wustl.edu 37 15 92459401 92459401 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 92459401 92459401 C T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.359 p.A120V 0.999 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 26 0 0.00 14 17 54.84 SMAD3 0 genome.wustl.edu 37 15 67473779 67473779 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 67473779 67473779 C T SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.859 p.R287W 0.540 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,pfam_Interferon_reg_factor-3,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 SMAD3 HGNC ENSG00000166949 tier1 - - 12 0 0.00 4 8 66.67 SMAD4 0 genome.wustl.edu 37 18 48591903 48591903 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 18 48591903 48591903 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1066 p.P356S 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 - - 75 0 0.00 34 11 24.44 SMARCD2 0 genome.wustl.edu 37 17 61911928 61911928 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 61911928 61911928 C T SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known missense c.827 p.R276Q 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 39 0 0.00 36 2 5.26 SMG6 0 genome.wustl.edu 37 17 2202239 2202239 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 2202239 2202239 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.1808 p.R603H 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 38 0 0.00 28 6 17.65 SNAPC1 0 genome.wustl.edu 37 14 62248986 62248986 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 62248986 62248986 C T SNP SNAPC1 ENST00000216294 human ensembl 74_37 +1 known missense c.847 p.R283C 1.000 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 tier1 - - 42 0 0.00 18 3 14.29 SNX14 0 genome.wustl.edu 37 6 86238024 86238024 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 86238024 86238024 C T SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known missense c.1951 p.E651K 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 tier1 - - 55 0 0.00 32 10 23.81 SNX29 0 genome.wustl.edu 37 16 12172757 12172757 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 12172757 12172757 G T SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known nonsense c.232 p.E78* 0.996 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 tier1 - - 36 0 0.00 9 3 25.00 SOBP 0 genome.wustl.edu 37 6 107956280 107956282 + In_Frame_Del DEL GCC GCC - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 107956280 107956282 GCC - DEL SOBP ENST00000317357 human ensembl 74_37 +1 known in_frame_del c.2232_2234 p.P748in_frame_del 0.125:0.067:0.048 NULL NULL - no_errors SOBP HGNC ENSG00000112320 tier1 30 0 0.00 9 2 18.18 SPAG6 0 genome.wustl.edu 37 10 22675815 22675815 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 22675815 22675815 C T SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known missense c.833 p.A278V 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 tier1 - - 60 0 0.00 61 4 6.15 SPDL1 0 genome.wustl.edu 37 5 169015479 169015479 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 169015479 169015479 G T SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known missense c.59 p.R20L 0.972 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 tier1 - - 51 0 0.00 15 3 16.67 SPTLC2 0 genome.wustl.edu 37 14 78023429 78023429 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 78023429 78023429 C T SNP SPTLC2 ENST00000216484 human ensembl 74_37 -1 known missense c.911 p.R304Q 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC2 HGNC ENSG00000100596 tier1 - - 61 0 0.00 23 4 14.81 SRCAP 0 genome.wustl.edu 37 16 30750262 30750262 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 30750262 30750262 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.8901 p.Q2967 1.000 NULL 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 25 0 0.00 10 2 16.67 SSH2 0 genome.wustl.edu 37 17 27959375 27959375 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 27959375 27959375 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.2756 p.P919L 0.003 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 40 0 0.00 25 2 7.41 STX6 0 genome.wustl.edu 37 1 180944246 180944247 + RNA INS - - A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 180944246 180944247 - A INS STX6 ENST00000469135 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors STX6 HGNC ENSG00000135823 tier1 42 0 0.00 27 4 12.90 STXBP3 0 genome.wustl.edu 37 1 109339310 109339310 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 109339310 109339310 C T SNP STXBP3 ENST00000370008 human ensembl 74_37 +1 known missense c.1318 p.R440C 0.983 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 tier1 - - 55 0 0.00 48 17 26.15 SUPT3H 0 genome.wustl.edu 37 6 44922333 44922333 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 44922333 44922333 A G SNP SUPT3H ENST00000371460 human ensembl 74_37 -1 known missense c.625 p.S209P 1.000 NULL pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 tier1 - - 99 0 0.00 85 8 8.60 SYAP1 0 genome.wustl.edu 37 X 16778364 16778364 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 16778364 16778364 C T SNP SYAP1 ENST00000380155 human ensembl 74_37 +1 known missense c.941 p.A314V 0.998 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors SYAP1 HGNC ENSG00000169895 tier1 - - 76 0 0.00 72 4 5.26 SYT4 0 genome.wustl.edu 37 18 40850380 40850380 + Nonsense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 18 40850380 40850380 C A SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known nonsense c.1204 p.G402* 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 63 0 0.00 22 4 15.38 TAF1B 0 genome.wustl.edu 37 2 10059890 10059890 + Frame_Shift_Del DEL C C - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 10059890 10059890 C - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.1506 p.Q503fs 0.963 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 tier1 72 0 0.00 14 2 12.50 TBCEL 0 genome.wustl.edu 37 11 120929152 120929152 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 120929152 120929152 G A SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.811 p.E271K 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 tier1 - - 83 0 0.00 62 25 28.74 TCEAL2 0 genome.wustl.edu 37 X 101382235 101382235 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 101382235 101382235 G A SNP TCEAL2 ENST00000329035 human ensembl 74_37 +1 known missense c.433 p.G145R 0.078 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 tier1 - - 15 0 0.00 15 17 53.12 TCN1 0 genome.wustl.edu 37 11 59631536 59631536 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 59631536 59631536 G A SNP TCN1 ENST00000257264 human ensembl 74_37 -1 known missense c.103 p.R35C 0.000 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 tier1 - - 103 0 0.00 47 5 9.62 TJP3 0 genome.wustl.edu 37 19 3738902 3738902 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 3738902 3738902 G T SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.1500 p.W500C 0.143 superfamily_PDZ pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 tier1 - - 29 0 0.00 14 3 17.65 TLR4 0 genome.wustl.edu 37 9 120475211 120475211 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 120475211 120475211 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.805 p.L269V 0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 60 0 0.00 33 7 17.50 TMEM132B 0 genome.wustl.edu 37 12 125834009 125834009 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 125834009 125834009 C T SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known nonsense c.64 p.R22* 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 65 0 0.00 23 13 36.11 TMEM184B 0 genome.wustl.edu 37 22 38642064 38642064 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 22 38642064 38642064 G A SNP TMEM184B ENST00000361684 human ensembl 74_37 -1 known missense c.235 p.R79C 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184B HGNC ENSG00000198792 tier1 - - 46 0 0.00 33 5 13.16 TNR 0 genome.wustl.edu 37 1 175323593 175323593 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 175323593 175323593 T G SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.3316 p.T1106P 1.000 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_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 tier1 - - 47 0 0.00 34 11 24.44 TOMM20L 0 genome.wustl.edu 37 14 58875294 58875294 + Silent SNP T T A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 14 58875294 58875294 T A SNP TOMM20L ENST00000360945 human ensembl 74_37 +1 known silent c.453 p.P151 0.151 superfamily_Tom20_dom,pirsf_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 71 0 0.00 32 4 11.11 TOR1AIP1 0 genome.wustl.edu 37 1 179886640 179886640 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 179886640 179886640 C T SNP TOR1AIP1 ENST00000528443 human ensembl 74_37 +1 known silent c.1021 p.L341 0.014 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 33 0 0.00 33 2 5.71 TP53 0 genome.wustl.edu 37 17 7577558 7577558 + Frame_Shift_Del DEL G G - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 7577558 7577558 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.723 p.C242fs 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 49 0 0.00 16 19 54.29 TRHDE 0 genome.wustl.edu 37 12 72667155 72667155 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 72667155 72667155 G T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.597 p.A199 0.004 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 102 0 0.00 55 3 5.17 TRIM11 0 genome.wustl.edu 37 1 228582443 228582443 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 228582443 228582443 G A SNP TRIM11 ENST00000284551 human ensembl 74_37 -1 known missense c.1370 p.P457L 0.001 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 tier1 - - 164 0 0.00 67 11 14.10 TRIM49 0 genome.wustl.edu 37 11 89531678 89531678 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 89531678 89531678 T G SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.979 p.S327R 0.000 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 102 0 0.00 72 6 7.69 TRIM49C 0 genome.wustl.edu 37 11 89774338 89774338 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 89774338 89774338 A C SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.979 p.S327R 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 173 0 0.00 110 16 12.70 TRIM50 0 genome.wustl.edu 37 7 72734220 72734220 + Missense_Mutation SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 72734220 72734220 A G SNP TRIM50 ENST00000333149 human ensembl 74_37 -1 known missense c.421 p.S141P 0.931 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 tier1 - - 152 0 0.00 63 21 25.00 TRMT11 0 genome.wustl.edu 37 6 126319386 126319386 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 126319386 126319386 G A SNP TRMT11 ENST00000461129 human ensembl 74_37 +1 known missense c.230 p.R77Q 0.932 NULL NULL - no_errors TRMT11 HGNC ENSG00000066651 tier1 - - 54 0 0.00 17 10 37.04 TRNT1 0 genome.wustl.edu 37 3 3179068 3179068 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 3 3179068 3179068 G T SNP TRNT1 ENST00000251607 human ensembl 74_37 +1 known missense c.273 p.E91D 0.973 pfam_PolA_pol_head_dom pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 56 0 0.00 54 4 6.90 TRPM5 0 genome.wustl.edu 37 11 2428371 2428371 + Silent SNP A A G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 11 2428371 2428371 A G SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known silent c.3102 p.A1034 0.121 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 148 0 0.00 126 7 5.26 TSC2 0 genome.wustl.edu 37 16 2134649 2134649 + Nonsense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 2134649 2134649 G T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known nonsense c.4426 p.E1476* 1.000 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 112 0 0.00 57 4 6.56 TTC39B 0 genome.wustl.edu 37 9 15177695 15177695 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 15177695 15177695 C A SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known missense c.1841 p.S614I 1.000 smart_TPR_repeat pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 63 0 0.00 53 3 5.36 TTK 0 genome.wustl.edu 37 6 80718160 80718160 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 80718160 80718160 G T SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.420 p.K140N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 42 0 0.00 23 2 8.00 TTLL7 0 genome.wustl.edu 37 1 84356015 84356015 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 84356015 84356015 G A SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known silent c.2358 p.F786 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 tier1 - - 115 0 0.00 61 10 14.08 TTN 0 genome.wustl.edu 37 2 179500965 179500965 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 179500965 179500965 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.33629 p.L11210R 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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 - - 31 0 0.00 10 8 44.44 TTN 0 genome.wustl.edu 37 2 179602842 179602842 + Missense_Mutation SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 179602842 179602842 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10606 p.S3536G 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 42 0 0.00 24 9 27.27 UBASH3A 0 genome.wustl.edu 37 21 43852260 43852260 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 21 43852260 43852260 G T SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known missense c.1219 p.V407L 1.000 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 tier1 - - 46 0 0.00 20 3 13.04 UGT2B28 0 genome.wustl.edu 37 4 70146388 70146388 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 70146388 70146388 C A SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.170 p.A57E 0.003 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 159 0 0.00 68 4 5.56 UNC13C 0 genome.wustl.edu 37 15 54792315 54792315 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 15 54792315 54792315 A C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.5099 p.N1700T 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 - - 71 0 0.00 34 30 46.88 URB1 0 genome.wustl.edu 37 21 33719711 33719711 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 21 33719711 33719711 G T SNP URB1 ENST00000382751 human ensembl 74_37 -1 known missense c.3422 p.T1141K 0.000 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 tier1 - - 46 0 0.00 16 3 15.79 USP37 0 genome.wustl.edu 37 2 219341622 219341622 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 219341622 219341622 G T SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.1984 p.L662I 0.985 pfam_Peptidase_C19/C67,smart_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 tier1 - - 65 0 0.00 57 4 6.56 VAC14 0 genome.wustl.edu 37 16 70778407 70778407 + Missense_Mutation SNP G G C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 70778407 70778407 G C SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known missense c.1447 p.L483V 0.001 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 tier1 - - 84 0 0.00 54 10 15.62 VAT1L 0 genome.wustl.edu 37 16 77850905 77850905 + Silent SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 16 77850905 77850905 T C SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known silent c.321 p.S107 0.997 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 tier1 - - 52 0 0.00 28 8 22.22 VIT 0 genome.wustl.edu 37 2 37032713 37032713 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 37032713 37032713 C T SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.1295 p.A432V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 tier1 - - 118 0 0.00 71 4 5.33 VNN1 0 genome.wustl.edu 37 6 133032938 133032938 + Missense_Mutation SNP C C A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 133032938 133032938 C A SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known missense c.251 p.G84V 0.986 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 107 0 0.00 70 4 5.41 VPS13B 0 genome.wustl.edu 37 8 100128051 100128051 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 8 100128051 100128051 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.886 p.E296K 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 60 0 0.00 36 5 12.20 VPS37B 0 genome.wustl.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 12 123351892 123351892 G 0 DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 13 0 0.00 4 2 33.33 VSTM2B 0 genome.wustl.edu 37 19 30018291 30018291 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 30018291 30018291 G A SNP VSTM2B ENST00000335523 human ensembl 74_37 +1 known missense c.256 p.A86T 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2B HGNC ENSG00000187135 tier1 - - 52 0 0.00 36 6 13.95 WDR34 0 genome.wustl.edu 37 9 131397627 131397627 + RNA DEL A A - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 131397627 131397627 A - DEL WDR34 ENST00000473486 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors WDR34 HGNC ENSG00000119333 tier1 12 0 0.00 7 3 30.00 WSB1 0 genome.wustl.edu 37 17 25637196 25637196 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 25637196 25637196 G A SNP WSB1 ENST00000262394 human ensembl 74_37 +1 known missense c.994 p.D332N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB1 HGNC ENSG00000109046 tier1 - - 33 0 0.00 20 11 35.48 XIRP2 0 genome.wustl.edu 37 2 167992572 167992572 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 2 167992572 167992572 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.562 p.A188S 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 46 0 0.00 20 2 9.09 YARS 0 genome.wustl.edu 37 1 33276597 33276597 + Missense_Mutation SNP C C G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 1 33276597 33276597 C G SNP YARS ENST00000373477 human ensembl 74_37 -1 known missense c.119 p.W40S 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 tier1 - - 38 0 0.00 35 12 25.53 ZBTB4 0 genome.wustl.edu 37 17 7366573 7366573 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 17 7366573 7366573 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.1728 p.G576 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 - - 75 0 0.00 55 5 8.33 ZC3HAV1L 0 genome.wustl.edu 37 7 138713558 138713558 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 138713558 138713558 G T SNP ZC3HAV1L ENST00000275766 human ensembl 74_37 -1 known missense c.650 p.A217E 0.000 NULL NULL - no_errors ZC3HAV1L HGNC ENSG00000146858 tier1 - - 92 0 0.00 53 4 7.02 ZCCHC16 0 genome.wustl.edu 37 X 111698082 111698082 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 X 111698082 111698082 A C SNP ZCCHC16 ENST00000340433 human ensembl 74_37 +1 known missense c.126 p.Q42H 0.001 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ENSG00000187823 tier1 - - 39 0 0.00 11 6 35.29 ZFP2 0 genome.wustl.edu 37 5 178358975 178358975 + Frame_Shift_Del DEL A A - TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 178358975 178358975 A - DEL ZFP2 ENST00000361362 human ensembl 74_37 +1 known frame_shift_del c.661 p.A222fs 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 tier1 54 0 0.00 20 2 9.09 ZFP2 0 genome.wustl.edu 37 5 178359054 178359054 + Missense_Mutation SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 178359054 178359054 G A SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known missense c.740 p.C247Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 tier1 - - 53 0 0.00 39 4 9.30 ZNF184 0 genome.wustl.edu 37 6 27419796 27419796 + Silent SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 6 27419796 27419796 G T SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known silent c.1542 p.L514 0.004 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 ZNF184 HGNC ENSG00000096654 tier1 - - 59 0 0.00 58 4 6.45 ZNF248 0 genome.wustl.edu 37 10 38121298 38121298 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 10 38121298 38121298 C T SNP ZNF248 ENST00000357328 human ensembl 74_37 -1 known missense c.985 p.V329M 0.996 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ENSG00000198105 tier1 - - 54 0 0.00 57 12 17.39 ZNF280B 0 genome.wustl.edu 37 22 22843122 22843122 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 22 22843122 22843122 G T SNP ZNF280B ENST00000360412 human ensembl 74_37 -1 known missense c.602 p.A201D 0.010 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 65 0 0.00 38 3 7.32 ZNF317 0 genome.wustl.edu 37 19 9271408 9271408 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 9271408 9271408 G T SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known missense c.1087 p.A363S 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 - - 42 0 0.00 11 3 21.43 ZNF354C 0 genome.wustl.edu 37 5 178505852 178505852 + Missense_Mutation SNP A A C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 5 178505852 178505852 A C SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.419 p.K140T 0.186 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 tier1 - - 42 0 0.00 16 7 30.43 ZNF521 0 genome.wustl.edu 37 18 22669454 22669454 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 18 22669454 22669454 T G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3881 p.K1294T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 69 0 0.00 61 9 12.86 ZNF521 0 genome.wustl.edu 37 18 22805957 22805957 + Missense_Mutation SNP T T G TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 18 22805957 22805957 T G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.1925 p.K642T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 19 0 0.00 12 8 40.00 ZNF595 0 genome.wustl.edu 37 4 85996 85997 + RNA INS - - C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 4 85996 85997 - C INS ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.009 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 35 0 0.00 10 5 33.33 ZNF658 0 genome.wustl.edu 37 9 40789482 40789483 + Splice_Site INS - - A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 9 40789482 40789483 0 A INS ZNF658 ENST00000602553 human ensembl 74_37 -1 known splice_site_ins c.1-3_4 e1-2 0.023:0.023 - - - no_errors ZNF658 HGNC ENSG00000196409 23 0 0.00 10 5 33.33 ZNF716 0 genome.wustl.edu 37 7 57529025 57529025 + Silent SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 57529025 57529025 C T SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known silent c.858 p.Y286 0.407 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 ZNF716 HGNC ENSG00000182111 tier1 - - 71 0 0.00 30 4 11.76 ZNF783 0 genome.wustl.edu 37 7 148991029 148991029 + Nonsense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 148991029 148991029 C T SNP ZNF783 ENST00000481519 human ensembl 74_37 +1 known nonsense c.730 p.R244* 0.000 NULL NULL - no_errors ZNF783 HGNC ENSG00000204946 tier1 - - 20 0 0.00 14 4 22.22 ZNF790 0 genome.wustl.edu 37 19 37309758 37309758 + Silent SNP G G A TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 37309758 37309758 G A SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known silent c.1488 p.H496 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 tier1 - - 58 0 0.00 42 5 10.64 ZNF853 0 genome.wustl.edu 37 7 6656836 6656836 + Missense_Mutation SNP C C T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 6656836 6656836 C T SNP ZNF853 ENST00000457543 human ensembl 74_37 +1 known missense c.28 p.R10W 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF853 HGNC ENSG00000236609 tier1 - - 160 0 0.00 46 10 17.86 ZNF98 0 genome.wustl.edu 37 19 22575277 22575277 + Missense_Mutation SNP T T C TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 19 22575277 22575277 T C SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.760 p.T254A 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 tier1 - - 28 0 0.00 17 11 39.29 ZPBP 0 genome.wustl.edu 37 7 50121489 50121489 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 331f86e1-29ff-42c6-bd8e-773984894438 bbb323d3-ba48-46f1-b6f5-8174dadc4287 7 50121489 50121489 G T SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known missense c.215 p.A72E 0.897 pfscan_Ig-like_dom pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 45 0 0.00 44 3 6.38