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 ABCA13 0 genome.wustl.edu 37 7 48311788 48311788 + Missense_Mutation SNP T T A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 48311788 48311788 T A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2525 p.I842N 0.281 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 78 0 0.00 45 4 8.16 ABCB9 0 genome.wustl.edu 37 12 123434423 123434423 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 123434423 123434423 T C SNP ABCB9 ENST00000442028 human ensembl 74_37 -1 known missense c.759 p.I253M 0.733 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB9 HGNC ENSG00000150967 tier1 - - 63 0 0.00 20 5 20.00 ABCD4 0 genome.wustl.edu 37 14 74759556 74759556 + Frame_Shift_Del DEL A A - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 74759556 74759556 A - DEL ABCD4 ENST00000356924 human ensembl 74_37 -1 known frame_shift_del c.831 p.F277fs 0.998 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCD4 HGNC ENSG00000119688 tier1 25 0 0.00 7 2 22.22 ABHD12B 0 genome.wustl.edu 37 14 51347290 51347290 + Splice_Site SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 51347290 51347290 G T SNP ABHD12B ENST00000337334 human ensembl 74_37 +1 known splice_site c.455+1 e4+1 1.000 - - - no_errors ABHD12B HGNC ENSG00000131969 tier1 - - 51 0 0.00 19 3 13.64 ACHE 0 genome.wustl.edu 37 7 100490296 100490296 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 100490296 100490296 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known silent c.1212 p.L404 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 tier1 - - 99 0 0.00 49 8 14.04 ACOT12 0 genome.wustl.edu 37 5 80643707 80643707 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 80643707 80643707 C T SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known missense c.539 p.G180D 0.011 NULL pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 85 0 0.00 15 2 11.76 ACTL6B 0 genome.wustl.edu 37 7 100253447 100253447 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 100253447 100253447 G A SNP ACTL6B ENST00000160382 human ensembl 74_37 -1 known silent c.81 p.Y27 0.998 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6B HGNC ENSG00000077080 tier1 - - 85 0 0.00 42 4 8.70 ACTRT3 0 genome.wustl.edu 37 3 169485221 169485221 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 169485221 169485221 C T SNP ACTRT3 ENST00000330368 human ensembl 74_37 -1 known silent c.1118 p.*373 1.000 NULL pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT3 HGNC ENSG00000184378 tier1 - - 29 0 0.00 8 4 33.33 ADAM29 0 genome.wustl.edu 37 4 175897795 175897795 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 175897795 175897795 T G SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1119 p.D373E 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 33 0 0.00 5 2 28.57 ADCY8 0 genome.wustl.edu 37 8 131833649 131833649 + Missense_Mutation SNP T T A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 131833649 131833649 T A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2693 p.K898M 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 60 0 0.00 24 3 11.11 ADRBK2 0 genome.wustl.edu 37 22 26074809 26074809 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 22 26074809 26074809 A C SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known missense c.674 p.K225T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK2 HGNC ENSG00000100077 tier1 - - 35 0 0.00 13 5 27.78 ADRM1 0 genome.wustl.edu 37 20 60882437 60882437 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 60882437 60882437 G A SNP ADRM1 ENST00000253003 human ensembl 74_37 +1 known silent c.552 p.G184 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 tier1 - - 137 0 0.00 85 8 8.60 AFF2 0 genome.wustl.edu 37 X 148039913 148039913 + Missense_Mutation SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 148039913 148039913 A T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2615 p.E872V 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 46 0 0.00 14 3 17.65 AGL 0 genome.wustl.edu 37 1 100335979 100335979 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 100335979 100335979 G A SNP AGL ENST00000294724 human ensembl 74_37 +1 known missense c.688 p.E230K 0.954 superfamily_Glycoside_hydrolase_SF,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 - - 46 0 0.00 19 6 24.00 AGPS 0 genome.wustl.edu 37 2 178299116 178299116 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 178299116 178299116 G C SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.412 p.V138L 1.000 NULL pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 tier1 - - 103 0 0.00 41 5 10.87 AHI1 0 genome.wustl.edu 37 6 135787092 135787092 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 135787092 135787092 C A SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.609 p.E203D 1.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 tier1 - - 107 0 0.00 39 5 11.36 AHNAK 0 genome.wustl.edu 37 11 62293282 62293282 + Silent SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 62293282 62293282 A T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.8607 p.V2869 0.948 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 118 0 0.00 40 18 31.03 AHNAK2 0 genome.wustl.edu 37 14 105408919 105408919 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 105408919 105408919 T G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.12869 p.D4290A 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 175 0 0.00 89 11 11.00 ALOX5 0 genome.wustl.edu 37 10 45941110 45941110 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 45941110 45941110 G A SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.2000 p.R667Q 1.000 superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 tier1 - - 26 0 0.00 11 3 21.43 ALPP 0 genome.wustl.edu 37 2 233243909 233243909 + Splice_Site SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 233243909 233243909 G A SNP ALPP ENST00000392027 human ensembl 74_37 +1 known splice_site c.194-1 e3-1 1.000 - - - no_errors ALPP HGNC ENSG00000163283 tier1 rs150492331 - 92 0 0.00 28 7 20.00 ANKRD30A 0 genome.wustl.edu 37 10 37421265 37421265 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 37421265 37421265 A C SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.440 p.K147T 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 71 0 0.00 17 9 34.62 ANKRD33B 0 genome.wustl.edu 37 5 10649794 10649794 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 10649794 10649794 C T SNP ANKRD33B ENST00000296657 human ensembl 74_37 +1 novel missense c.1054 p.R352W 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33B HGNC ENSG00000164236 tier1 - - 65 0 0.00 55 4 6.78 ANKS4B 0 genome.wustl.edu 37 16 21261759 21261759 + Missense_Mutation SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 21261759 21261759 A T SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known missense c.872 p.K291M 0.525 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 49 0 0.00 34 2 5.56 ANO2 0 genome.wustl.edu 37 12 5685120 5685120 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 5685120 5685120 C T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.2504 p.S835N 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 tier1 - - 64 0 0.00 45 4 8.16 ANP32A 0 genome.wustl.edu 37 15 69072347 69072347 + RNA DEL G G - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 69072347 69072347 G - DEL ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANP32A HGNC ENSG00000140350 tier1 53 0 0.00 19 4 17.39 APBB1IP 0 genome.wustl.edu 37 10 26856357 26856357 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 26856357 26856357 G A SNP APBB1IP ENST00000376236 human ensembl 74_37 +1 known silent c.1941 p.E647 0.999 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC ENSG00000077420 tier1 - - 36 0 0.00 25 4 13.79 APLF 0 genome.wustl.edu 37 2 68765198 68765198 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 68765198 68765198 C T SNP APLF ENST00000303795 human ensembl 74_37 +1 known silent c.999 p.G333 0.190 NULL pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 tier1 - - 43 0 0.00 12 11 47.83 AQP3 0 genome.wustl.edu 37 9 33441179 33441180 + RNA INS - - T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 33441179 33441180 - T INS AQP3 ENST00000493581 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.018 - - - no_errors AQP3 HGNC ENSG00000165272 tier1 78 0 0.00 39 12 23.53 ARHGEF7 0 genome.wustl.edu 37 13 111862249 111862249 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 13 111862249 111862249 C T SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.431 p.A144V 1.000 superfamily_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 134 0 0.00 51 3 5.56 ARMC4 0 genome.wustl.edu 37 10 28151508 28151508 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 28151508 28151508 A G SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.2654 p.L885P 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 tier1 - - 67 0 0.00 34 13 27.66 ASXL2 0 genome.wustl.edu 37 2 26101061 26101061 + Missense_Mutation SNP T T A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 26101061 26101061 T A SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.31 p.R11W 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 tier1 - - 132 0 0.00 50 7 12.28 ATP10A 0 genome.wustl.edu 37 15 25947173 25947173 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 25947173 25947173 G T SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2650 p.Q884K 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 106 0 0.00 38 4 9.30 ATP10A 0 genome.wustl.edu 37 15 25959185 25959185 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 25959185 25959185 C A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1980 p.Q660H 0.000 superfamily_HAD-like_dom pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 120 0 0.00 44 14 24.14 ATP4A 0 genome.wustl.edu 37 19 36050028 36050028 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 36050028 36050028 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.1122 p.A374 0.987 pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 tier1 - - 46 0 0.00 14 4 22.22 ATP8A1 0 genome.wustl.edu 37 4 42467002 42467002 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 42467002 42467002 C T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.2416 p.V806I 1.000 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 tier1 - - 52 0 0.00 11 3 21.43 BDNF 0 genome.wustl.edu 37 11 27679499 27679499 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 27679499 27679499 T G SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.859 p.N287H 1.000 pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 tier1 - - 18 0 0.00 6 5 45.45 BICC1 0 genome.wustl.edu 37 10 60562850 60562850 + Silent SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 60562850 60562850 T C SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.2029 p.L677 0.949 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 36 0 0.00 18 7 28.00 BRD4 0 genome.wustl.edu 37 19 15355177 15355177 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 15355177 15355177 C T SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.2446 p.V816I 0.997 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 tier1 - - 96 0 0.00 52 5 8.77 BTN1A1 0 genome.wustl.edu 37 6 26509198 26509198 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 26509198 26509198 C T SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known silent c.1377 p.F459 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 64 0 0.00 24 3 11.11 C10orf112 0 genome.wustl.edu 37 10 19493862 19493862 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 19493862 19493862 A C SNP C10orf112 ENST00000454679 human ensembl 74_37 +1 known missense c.134 p.E45A 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt,prints_MAM_dom - no_errors C10orf112 HGNC ENSG00000204740 tier1 - - 66 0 0.00 35 5 12.50 C12orf76 0 genome.wustl.edu 37 12 110511298 110511301 + RNA DEL TTTG TTTG - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 110511298 110511301 TTTG - DEL C12orf76 ENST00000548936 human ensembl 74_37 -1 known rna NULL NULL 0.969:0.995:0.998:0.997 - - - no_errors C12orf76 HGNC ENSG00000174456 tier1 94 0 0.00 31 11 26.19 C14orf177 0 genome.wustl.edu 37 14 99183561 99183561 + Silent SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 99183561 99183561 A C SNP C14orf177 ENST00000325812 human ensembl 74_37 +1 known silent c.328 p.R110 0.000 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 tier1 - - 52 0 0.00 25 11 30.56 C1orf173 0 genome.wustl.edu 37 1 75102058 75102058 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 75102058 75102058 G A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.509 p.P170L 0.568 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 107 0 0.00 37 8 17.78 C2orf69 0 genome.wustl.edu 37 2 200790063 200790063 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 200790063 200790063 G C SNP C2orf69 ENST00000319974 human ensembl 74_37 +1 known missense c.612 p.K204N 0.923 pfam_UPF0565 pfam_UPF0565 - no_errors C2orf69 HGNC ENSG00000178074 tier1 - - 73 0 0.00 33 4 10.81 C4B 0 genome.wustl.edu 37 6 31997689 31997689 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 31997689 31997689 C A SNP C4B ENST00000435363 human ensembl 74_37 +1 known missense c.3941 p.A1314D 0.093 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4B HGNC ENSG00000224389 tier1 - - 26 0 0.00 12 8 40.00 C6orf118 0 genome.wustl.edu 37 6 165695343 165695343 + RNA SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 165695343 165695343 A C SNP C6orf118 ENST00000491176 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 29 0 0.00 7 5 41.67 CACNA1G 0 genome.wustl.edu 37 17 48695481 48695481 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 48695481 48695481 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.5299 p.D1767N 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 tier1 - - 70 0 0.00 48 49 50.52 CACNA2D1 0 genome.wustl.edu 37 7 81593645 81593645 + Missense_Mutation SNP T T A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 81593645 81593645 T A SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.2641 p.S881C 0.980 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 43 0 0.00 13 6 31.58 CACNB1 0 genome.wustl.edu 37 17 37331544 37331544 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 37331544 37331544 G A SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known missense c.1699 p.R567W 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 44 0 0.00 19 3 13.64 CAMSAP3 0 genome.wustl.edu 37 19 7682863 7682863 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 7682863 7682863 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.3751 p.D1251N 1.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 90 0 0.00 38 2 5.00 CAMTA1 0 genome.wustl.edu 37 1 7724522 7724522 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 7724522 7724522 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.1915 p.G639R 0.965 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 93 0 0.00 43 5 10.42 CAPN9 0 genome.wustl.edu 37 1 230883352 230883352 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 230883352 230883352 T G SNP CAPN9 ENST00000271971 human ensembl 74_37 +1 known missense c.110 p.L37R 1.000 smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 tier1 - - 152 0 0.00 41 21 33.33 CASS4 0 genome.wustl.edu 37 20 55012496 55012496 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 55012496 55012496 C T SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.313 p.R105C 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 45 0 0.00 32 2 5.88 CCDC109B 0 genome.wustl.edu 37 4 110606475 110606475 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 110606475 110606475 G A SNP CCDC109B ENST00000394650 human ensembl 74_37 +1 known silent c.885 p.Q295 0.000 pfam_Coiled-coil-dom_prot_109_C pfam_Coiled-coil-dom_prot_109_C - no_errors CCDC109B HGNC ENSG00000005059 tier1 - - 46 0 0.00 18 3 14.29 CCDC149 0 genome.wustl.edu 37 4 24839867 24839867 + Frame_Shift_Del DEL T T - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 24839867 24839867 T - DEL CCDC149 ENST00000504487 human ensembl 74_37 -1 known frame_shift_del c.400 p.R134fs 0.999 pfam_Coiled-coil_dom-contain_pr_149 pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC ENSG00000181982 tier1 55 0 0.00 10 2 16.67 CCDC169 0 genome.wustl.edu 37 13 36801276 36801276 + RNA SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 13 36801276 36801276 T C SNP CCDC169 ENST00000479850 human ensembl 74_37 -1 known rna NULL NULL 0.210 - - - no_errors CCDC169 HGNC ENSG00000242715 tier1 - - 40 0 0.00 11 6 35.29 CCDC180 0 genome.wustl.edu 37 9 100077198 100077198 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 100077198 100077198 A G SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known silent c.897 p.E299 0.485 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 tier1 - - 23 0 0.00 10 6 37.50 CCDC73 0 genome.wustl.edu 37 11 32635921 32635921 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 32635921 32635921 C A SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known missense c.1943 p.R648L 0.025 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 70 0 0.00 33 2 5.71 CCDC74B 0 genome.wustl.edu 37 2 130902262 130902262 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 130902262 130902262 G A SNP CCDC74B ENST00000409128 human ensembl 74_37 -1 putative missense c.308 p.P103L 0.001 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 tier1 - - 72 0 0.00 28 14 33.33 CCDC88C 0 genome.wustl.edu 37 14 91739932 91739932 + Silent SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 91739932 91739932 G T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.5124 p.A1708 0.264 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 tier1 - - 89 0 0.00 36 4 10.00 CDK6 0 genome.wustl.edu 37 7 92244497 92244497 + Missense_Mutation SNP T T A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 92244497 92244497 T A SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known missense c.938 p.H313L 0.713 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK6 HGNC ENSG00000105810 tier1 - - 48 0 0.00 17 3 15.00 CDK7 0 genome.wustl.edu 37 5 68565057 68565057 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 68565057 68565057 A G SNP CDK7 ENST00000256443 human ensembl 74_37 +1 known silent c.651 p.S217 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK7 HGNC ENSG00000134058 tier1 - - 83 0 0.00 23 4 14.81 CDKN2A 0 genome.wustl.edu 37 9 21970901 21970901 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 21970901 21970901 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.457 p.E153K 0.995 superfamily_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 rs45476696 - 74 0 0.00 20 12 37.50 CENPN 0 genome.wustl.edu 37 16 81058368 81058368 + Nonsense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 81058368 81058368 G T SNP CENPN ENST00000393335 human ensembl 74_37 +1 putative nonsense c.682 p.G228* 0.526 pfam_Chl4/mis15/CENP-N pfam_Chl4/mis15/CENP-N - no_errors CENPN HGNC ENSG00000166451 tier1 - - 88 0 0.00 36 4 10.00 CEP85L 0 genome.wustl.edu 37 6 118953622 118953622 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 118953622 118953622 C T SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.235 p.V79M 0.996 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 59 0 0.00 23 4 14.81 CES1 0 genome.wustl.edu 37 16 55854390 55854390 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 55854390 55854390 A C SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.695 p.V232G 0.200 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 - - 113 0 0.00 51 8 13.56 CHD3 0 genome.wustl.edu 37 17 7796665 7796665 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 7796665 7796665 G C SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.571 p.A191P 1.000 pfam_CHD_N,superfamily_HMG_box_dom pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 - - 85 0 0.00 28 6 17.65 CLASP2 0 genome.wustl.edu 37 3 33543245 33543245 + Missense_Mutation SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 33543245 33543245 C G SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.4354 p.E1452Q 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 44 0 0.00 28 3 9.68 CLEC12B 0 genome.wustl.edu 37 12 10167210 10167210 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 10167210 10167210 C T SNP CLEC12B ENST00000338896 human ensembl 74_37 +1 known silent c.279 p.S93 0.400 pfam_Ly49 pfam_C-type_lectin,pfam_Ly49,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12B HGNC ENSG00000256660 tier1 - - 42 0 0.00 20 6 23.08 CNTN5 0 genome.wustl.edu 37 11 100061873 100061873 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 100061873 100061873 A G SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known silent c.1596 p.P532 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 113 0 0.00 60 4 6.25 CNTN6 0 genome.wustl.edu 37 3 1425020 1425020 + Silent SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 1425020 1425020 T C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.2445 p.S815 0.932 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 tier1 - - 91 0 0.00 50 8 13.79 CNTNAP5 0 genome.wustl.edu 37 2 125204470 125204470 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 125204470 125204470 T G SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.874 p.F292V 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 - - 43 0 0.00 17 6 26.09 COL2A1 0 genome.wustl.edu 37 12 48367888 48367888 + Frame_Shift_Del DEL A A - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 48367888 48367888 A - DEL COL2A1 ENST00000380518 human ensembl 74_37 -1 known frame_shift_del c.4301 p.L1434fs 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 tier1 39 0 0.00 7 2 22.22 COL6A6 0 genome.wustl.edu 37 3 130287171 130287171 + Silent SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 130287171 130287171 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.2124 p.V708 0.909 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 45 0 0.00 17 3 15.00 COPS7A 0 genome.wustl.edu 37 12 6838513 6838513 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 6838513 6838513 G A SNP COPS7A ENST00000229251 human ensembl 74_37 +1 known missense c.428 p.G143D 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS7A HGNC ENSG00000111652 tier1 - - 52 0 0.00 34 4 10.53 CPQ 0 genome.wustl.edu 37 8 97797433 97797433 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 97797433 97797433 T G SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.308 p.V103G 0.979 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 tier1 - - 47 0 0.00 18 6 25.00 CPXM2 0 genome.wustl.edu 37 10 125472815 125472815 + RNA SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 125472815 125472815 T G SNP CPXM2 ENST00000368854 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CPXM2 HGNC ENSG00000121898 tier1 - - 51 0 0.00 17 7 29.17 CRAT 0 genome.wustl.edu 37 9 131862207 131862207 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 131862207 131862207 G A SNP CRAT ENST00000318080 human ensembl 74_37 -1 known silent c.1023 p.Y341 0.306 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 53 0 0.00 31 3 8.82 CRELD1 0 genome.wustl.edu 37 3 9979713 9979713 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 9979713 9979713 C T SNP CRELD1 ENST00000326434 human ensembl 74_37 +1 known missense c.383 p.P128L 0.999 superfamily_Growth_fac_rcpt_N_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 tier1 - - 54 0 0.00 17 15 46.88 CRYL1 0 genome.wustl.edu 37 13 20987431 20987431 + Silent SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 13 20987431 20987431 G C SNP CRYL1 ENST00000298248 human ensembl 74_37 -1 known silent c.729 p.L243 1.000 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 tier1 - - 56 0 0.00 27 5 15.15 CSMD2 0 genome.wustl.edu 37 1 34076780 34076780 + Silent SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 34076780 34076780 G T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.6204 p.P2068 0.108 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 CSMD2 HGNC ENSG00000121904 36 0 0.00 19 2 9.52 CTSO 0 genome.wustl.edu 37 4 156849542 156849542 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 156849542 156849542 T C SNP CTSO ENST00000433477 human ensembl 74_37 -1 known missense c.877 p.S293G 0.007 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 tier1 - - 105 0 0.00 25 11 30.56 CXADRP3 0 genome.wustl.edu 37 18 14479007 14479007 + RNA SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 18 14479007 14479007 A C SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 52 0 0.00 9 9 47.37 CYP2C18 0 genome.wustl.edu 37 10 96447929 96447929 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 96447929 96447929 T C SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.379 p.C127R 0.826 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 tier1 - - 121 0 0.00 40 6 12.50 DAAM2 0 genome.wustl.edu 37 6 39832802 39832802 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 39832802 39832802 A G SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.380 p.N127S 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DAAM2 HGNC ENSG00000146122 tier1 - - 44 0 0.00 46 5 9.80 DCC 0 genome.wustl.edu 37 18 50936959 50936959 + Nonsense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 18 50936959 50936959 C T SNP DCC ENST00000442544 human ensembl 74_37 +1 known nonsense c.3073 p.R1025* 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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 75 0 0.00 26 2 7.14 DCDC1 0 genome.wustl.edu 37 11 31312305 31312305 + Silent SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 31312305 31312305 A T SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known silent c.849 p.S283 0.035 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 91 0 0.00 31 7 18.42 DEFB119 0 genome.wustl.edu 37 20 29976958 29976958 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 29976958 29976958 C T SNP DEFB119 ENST00000376315 human ensembl 74_37 -1 known missense c.137 p.R46H 0.156 superfamily_Scorpion_toxin-like superfamily_Scorpion_toxin-like - no_errors DEFB119 HGNC ENSG00000180483 76 0 0.00 38 2 5.00 DGKI 0 genome.wustl.edu 37 7 137092657 137092657 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 137092657 137092657 C T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2908 p.G970S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 83 0 0.00 46 3 6.12 DLGAP2 0 genome.wustl.edu 37 8 1624706 1624706 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 1624706 1624706 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.1970 p.T657M 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 tier1 - - 26 0 0.00 15 5 25.00 DNAH12 0 genome.wustl.edu 37 3 57357587 57357587 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 57357587 57357587 G T SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known missense c.7435 p.P2479T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 tier1 - - 110 0 0.00 48 4 7.69 DNAH8 0 genome.wustl.edu 37 6 38794124 38794124 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 38794124 38794124 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.3389 p.R1130H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 69 0 0.00 36 2 5.26 DNAI1 0 genome.wustl.edu 37 9 34491532 34491532 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 34491532 34491532 T G SNP DNAI1 ENST00000242317 human ensembl 74_37 +1 known missense c.661 p.F221V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 tier1 - - 114 0 0.00 74 9 10.84 DNM1P47 0 genome.wustl.edu 37 15 102304950 102304950 + RNA SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 102304950 102304950 G C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 62 0 0.00 22 4 15.38 DNM1P47 0 genome.wustl.edu 37 15 102304970 102304970 + RNA SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 102304970 102304970 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 67 0 0.00 21 4 16.00 DOCK2 0 genome.wustl.edu 37 5 169435601 169435601 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 169435601 169435601 A C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.3173 p.K1058T 1.000 superfamily_ARM-type_fold,superfamily_Ferritin-like_SF pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 62 0 0.00 17 9 34.62 DOCK8 0 genome.wustl.edu 37 9 422084 422084 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 422084 422084 G T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.4190 p.R1397I 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 36 0 0.00 9 3 25.00 DPP10 0 genome.wustl.edu 37 2 116594126 116594126 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 116594126 116594126 A C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.2106 p.E702D 0.998 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 44 0 0.00 20 5 20.00 DTWD1 0 genome.wustl.edu 37 15 49917567 49917567 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 49917567 49917567 A C SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known missense c.203 p.Y68S 1.000 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 tier1 - - 160 0 0.00 56 9 13.43 EDF1 0 genome.wustl.edu 37 9 139757385 139757385 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 139757385 139757385 C T SNP EDF1 ENST00000224073 human ensembl 74_37 -1 known missense c.358 p.V120M 1.000 pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH - no_errors EDF1 HGNC ENSG00000107223 tier1 - - 70 0 0.00 35 4 10.26 EFHB 0 genome.wustl.edu 37 3 19975259 19975259 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 19975259 19975259 C A SNP EFHB ENST00000295824 human ensembl 74_37 -1 known missense c.252 p.M84I 0.000 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 82 0 0.00 33 2 5.71 EFR3A 0 genome.wustl.edu 37 8 132958779 132958779 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 132958779 132958779 C T SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.265 p.H89Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 77 0 0.00 29 4 12.12 ELMO1 0 genome.wustl.edu 37 7 37243802 37243802 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 37243802 37243802 T C SNP ELMO1 ENST00000341056 human ensembl 74_37 -1 known missense c.104 p.K35R 0.007 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 24 0 0.00 8 7 46.67 EMD 0 genome.wustl.edu 37 X 153609157 153609157 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 153609157 153609157 G T SNP EMD ENST00000369842 human ensembl 74_37 +1 known missense c.444 p.K148N 0.001 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors EMD HGNC ENSG00000102119 tier1 - - 35 0 0.00 17 3 15.00 ENSG00000219926 0 genome.wustl.edu 37 13 64414146 64414146 + RNA SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 13 64414146 64414146 G A SNP ENSG00000219926 ENST00000607822 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-394A14.2 Clone_based_vega_gene ENSG00000219926 14 0 0.00 6 3 33.33 ENSG00000221388 0 genome.wustl.edu 37 2 213628386 213628386 + RNA SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 213628386 213628386 T C SNP ENSG00000221388 ENST00000408461 human ensembl 74_37 -1 novel rna NULL NULL 0.004 - - - no_errors AC093865.1 Clone_based_ensembl_gene ENSG00000221388 tier1 - - 30 0 0.00 6 4 40.00 ENSG00000223231 0 genome.wustl.edu 37 1 84259637 84259638 + RNA INS - - AA TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 84259637 84259638 - AA INS ENSG00000223231 ENST00000411299 human ensembl 74_37 +1 novel rna NULL NULL 0.082:0.062 - - - no_errors AL035706.1 Clone_based_ensembl_gene ENSG00000223231 tier1 67 0 0.00 30 5 14.29 ENSG00000241358 0 genome.wustl.edu 37 3 146113558 146113558 + RNA SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 146113558 146113558 T G SNP ENSG00000241358 ENST00000490344 human ensembl 74_37 -1 known rna NULL NULL 0.801 - - - no_errors RP11-758I14.3 Clone_based_vega_gene ENSG00000241358 tier1 - - 123 0 0.00 40 11 21.57 ENSG00000254506 0 genome.wustl.edu 37 11 101465073 101465073 + RNA SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 101465073 101465073 C T SNP ENSG00000254506 ENST00000527374 human ensembl 74_37 +1 known rna NULL NULL 0.874 - - - no_errors RP11-748H22.1 Clone_based_vega_gene ENSG00000254506 tier1 - - 54 0 0.00 18 8 30.77 ENSG00000258352 0 genome.wustl.edu 37 12 47529650 47529650 + RNA SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 47529650 47529650 G A SNP ENSG00000258352 ENST00000548463 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-23J18.1 Clone_based_vega_gene ENSG00000258352 tier1 - - 18 0 0.00 7 3 30.00 ENSG00000263756 0 genome.wustl.edu 37 6 32940349 32940349 + RNA SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 32940349 32940349 C T SNP ENSG00000263756 ENST00000580587 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors XXbac-BPG181M17.6 Clone_based_vega_gene ENSG00000263756 tier1 - - 97 0 0.00 41 13 24.07 ENTHD1 0 genome.wustl.edu 37 22 40231918 40231918 + Missense_Mutation SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 22 40231918 40231918 A T SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.638 p.V213D 0.000 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 87 0 0.00 38 2 5.00 EPB41L4A 0 genome.wustl.edu 37 5 111494139 111494139 + RNA SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 111494139 111494139 C A SNP EPB41L4A ENST00000507810 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EPB41L4A HGNC ENSG00000129595 tier1 - - 89 0 0.00 16 6 27.27 EPHA1 0 genome.wustl.edu 37 7 143087602 143087602 + RNA DEL G G - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 143087602 143087602 G - DEL EPHA1 ENST00000458129 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors EPHA1 HGNC ENSG00000146904 tier1 49 0 0.00 29 2 6.45 ERC2 0 genome.wustl.edu 37 3 55543970 55543970 + RNA SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 55543970 55543970 A C SNP ERC2 ENST00000484530 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 60 0 0.00 9 7 43.75 ESX1 0 genome.wustl.edu 37 X 103498837 103498837 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 103498837 103498837 C T SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known silent c.504 p.A168 0.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 tier1 - - 87 0 0.00 49 5 9.26 ETNK2 0 genome.wustl.edu 37 1 204106375 204106375 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 204106375 204106375 C T SNP ETNK2 ENST00000367201 human ensembl 74_37 -1 known missense c.871 p.V291M 1.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 36 0 0.00 29 2 6.45 FAM120C 0 genome.wustl.edu 37 X 54117833 54117833 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 54117833 54117833 C T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.2339 p.R780Q 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 tier1 - - 42 0 0.00 14 3 17.65 FAM13A 0 genome.wustl.edu 37 4 89708959 89708959 + Nonsense_Mutation SNP T T A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 89708959 89708959 T A SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known nonsense c.1216 p.R406* 0.994 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 tier1 - - 44 0 0.00 24 4 14.29 FAM13C 0 genome.wustl.edu 37 10 61122392 61122392 + RNA SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 61122392 61122392 G C SNP FAM13C ENST00000470220 human ensembl 74_37 -1 known rna NULL NULL 0.148 - - - no_errors FAM13C HGNC ENSG00000148541 tier1 - - 27 0 0.00 11 7 38.89 FAM198B 0 genome.wustl.edu 37 4 159091900 159091900 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 159091900 159091900 C T SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.628 p.E210K 1.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 tier1 - - 39 0 0.00 14 4 22.22 FAM205A 0 genome.wustl.edu 37 9 34725945 34725945 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 34725945 34725945 T C SNP FAM205A ENST00000378788 human ensembl 74_37 -1 novel missense c.1292 p.Q431R 0.998 NULL NULL - no_errors FAM205A HGNC ENSG00000205108 tier1 - - 43 0 0.00 12 10 45.45 FAM20B 0 genome.wustl.edu 37 1 179033624 179033624 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 179033624 179033624 G T SNP FAM20B ENST00000263733 human ensembl 74_37 +1 known missense c.931 p.A311S 1.000 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20B HGNC ENSG00000116199 tier1 - - 45 0 0.00 26 4 13.33 FAM230B 0 genome.wustl.edu 37 22 21540899 21540899 + RNA DEL T T - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 22 21540899 21540899 T - DEL FAM230B ENST00000415376 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 20 0 0.00 3 2 40.00 FBXW9 0 genome.wustl.edu 37 19 12800370 12800370 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 12800370 12800370 A G SNP FBXW9 ENST00000380339 human ensembl 74_37 -1 known silent c.1311 p.T437 0.762 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 tier1 - - 76 0 0.00 36 4 10.00 FDXR 0 genome.wustl.edu 37 17 72868242 72868242 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 72868242 72868242 G T SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.96 p.F32L 0.957 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 tier1 - - 33 0 0.00 5 9 64.29 FGF13 0 genome.wustl.edu 37 X 137939763 137939763 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 137939763 137939763 T G SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.128 p.K43T 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 tier1 - - 18 0 0.00 4 8 66.67 FLG 0 genome.wustl.edu 37 1 152284192 152284192 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 152284192 152284192 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3170 p.A1057E 0.000 pfam_Filaggrin,prints_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 288 0 0.00 156 10 6.02 FMO1 0 genome.wustl.edu 37 1 171254716 171254716 + RNA SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 171254716 171254716 G A SNP FMO1 ENST00000469112 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors FMO1 HGNC ENSG00000010932 tier1 - - 45 0 0.00 21 8 26.67 FOXN1 0 genome.wustl.edu 37 17 26851857 26851857 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 26851857 26851857 C T SNP FOXN1 ENST00000226247 human ensembl 74_37 +1 known missense c.460 p.P154S 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 88 0 0.00 35 2 5.41 FOXP2 0 genome.wustl.edu 37 7 114271582 114271582 + Splice_Site SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 114271582 114271582 G C SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known splice_site c.673-1 e6-1 0.135 - - - no_errors FOXP2 HGNC ENSG00000128573 46 0 0.00 25 2 7.41 FPGS 0 genome.wustl.edu 37 9 130566932 130566932 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 130566932 130566932 C T SNP FPGS ENST00000373247 human ensembl 74_37 +1 known silent c.339 p.F113 1.000 superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 93 0 0.00 42 5 10.64 FREM2 0 genome.wustl.edu 37 13 39263254 39263254 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 13 39263254 39263254 A G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.1773 p.S591 0.290 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 - - 41 0 0.00 22 3 12.00 FXYD2 0 genome.wustl.edu 37 11 117688619 117688619 + RNA SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 117688619 117688619 T C SNP FXYD2 ENST00000514385 human ensembl 74_37 -1 known rna NULL NULL 0.964 - - - no_errors FXYD2 HGNC ENSG00000137731 tier1 - - 12 0 0.00 5 5 50.00 GALNT8 0 genome.wustl.edu 37 12 4870249 4870249 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 4870249 4870249 C T SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known silent c.1299 p.A433 0.891 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 32 0 0.00 11 3 21.43 GAPVD1 0 genome.wustl.edu 37 9 128094797 128094797 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 128094797 128094797 G C SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.2317 p.A773P 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 47 0 0.00 11 2 15.38 GDE1 0 genome.wustl.edu 37 16 19522217 19522217 + Nonsense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 19522217 19522217 C A SNP GDE1 ENST00000353258 human ensembl 74_37 -1 known nonsense c.487 p.E163* 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDE1 HGNC ENSG00000006007 67 0 0.00 30 2 6.25 GH2 0 genome.wustl.edu 37 17 61958242 61958242 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 61958242 61958242 C T SNP GH2 ENST00000332800 human ensembl 74_37 -1 known missense c.346 p.V116M 0.885 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 93 0 0.00 44 4 8.33 GNAS 0 genome.wustl.edu 37 20 57430664 57430664 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 57430664 57430664 G A SNP GNAS ENST00000371099 human ensembl 74_37 +1 putative silent c.2124 p.A708 1.000 NULL NULL - no_errors GNAS HGNC ENSG00000087460 tier1 - - 83 0 0.00 39 14 26.42 GPR83 0 genome.wustl.edu 37 11 94113381 94113381 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 94113381 94113381 G A SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known silent c.1206 p.P402 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 tier1 - - 56 0 0.00 21 5 19.23 GREB1 0 genome.wustl.edu 37 2 11765431 11765431 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 11765431 11765431 G T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.4299 p.K1433N 0.864 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 53 0 0.00 17 4 19.05 GRID1 0 genome.wustl.edu 37 10 87407034 87407034 + Silent SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 87407034 87407034 A C SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.2118 p.A706 0.018 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 63 0 0.00 35 13 27.08 HAP1 0 genome.wustl.edu 37 17 39887793 39887793 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 39887793 39887793 G C SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known missense c.1021 p.L341V 0.047 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 tier1 - - 123 0 0.00 185 28 13.15 HDAC2 0 genome.wustl.edu 37 6 114277793 114277793 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 114277793 114277793 G A SNP HDAC2 ENST00000398283 human ensembl 74_37 -1 known silent c.630 p.G210 0.998 pfam_His_deacetylse_dom,prints_His_deacetylse_1 pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 50 0 0.00 19 2 9.52 HEATR1 0 genome.wustl.edu 37 1 236749748 236749748 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 236749748 236749748 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.1720 p.E574K 0.138 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 23 0 0.00 20 2 9.09 HEATR5A 0 genome.wustl.edu 37 14 31855727 31855727 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 31855727 31855727 G A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.1226 p.A409V 0.894 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 tier1 - - 50 0 0.00 35 4 10.26 HIST1H3C 0 genome.wustl.edu 37 6 26045967 26045968 + Frame_Shift_Del DEL TG TG - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 26045967 26045968 TG - DEL HIST1H3C ENST00000540144 human ensembl 74_37 +1 known frame_shift_del c.329_330 p.C111fs 1.000:1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 tier1 123 0 0.00 23 29 55.77 HMCN1 0 genome.wustl.edu 37 1 185878509 185878509 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 185878509 185878509 T G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.662 p.V221G 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 104 0 0.00 47 13 21.67 HOXB7 0 genome.wustl.edu 37 17 46685288 46685288 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 46685288 46685288 C T SNP HOXB7 ENST00000239165 human ensembl 74_37 -1 known missense c.570 p.M190I 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 78 0 0.00 32 2 5.88 HRH3 0 genome.wustl.edu 37 20 60791867 60791867 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 60791867 60791867 G A SNP HRH3 ENST00000317393 human ensembl 74_37 -1 known missense c.533 p.S178F 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH3 HGNC ENSG00000101180 tier1 - - 23 0 0.00 12 4 25.00 HS3ST3A1 0 genome.wustl.edu 37 17 13504307 13504307 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 13504307 13504307 T C SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known missense c.140 p.Q47R 0.970 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 77 0 0.00 26 3 10.34 HSF2 0 genome.wustl.edu 37 6 122743317 122743317 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 122743317 122743317 G T SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known missense c.704 p.G235V 1.000 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 tier1 - - 57 0 0.00 20 5 20.00 IGF1R 0 genome.wustl.edu 37 15 99467158 99467158 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 99467158 99467158 T C SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.2539 p.S847P 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 tier1 - - 98 0 0.00 44 4 8.33 IGHMBP2 0 genome.wustl.edu 37 11 68673634 68673634 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 68673634 68673634 C T SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.184 p.R62W 0.976 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 tier1 - - 62 0 0.00 20 16 44.44 INADL 0 genome.wustl.edu 37 1 62349918 62349918 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 62349918 62349918 C T SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.2969 p.P990L 0.026 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 tier1 - - 68 0 0.00 29 4 12.12 INPP4A 0 genome.wustl.edu 37 2 99172091 99172091 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 99172091 99172091 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known missense c.1657 p.R553W 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 tier1 - - 63 0 0.00 30 4 11.76 INPP5D 0 genome.wustl.edu 37 2 234094499 234094499 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 234094499 234094499 G T SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known missense c.2250 p.K750N 1.000 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 tier1 - - 77 0 0.00 32 4 11.11 INSR 0 genome.wustl.edu 37 19 7168031 7168031 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 7168031 7168031 A G SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.1558 p.W520R 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 - - 71 0 0.00 22 4 15.38 IQCD 0 genome.wustl.edu 37 12 113645642 113645642 + Missense_Mutation SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 113645642 113645642 C G SNP IQCD ENST00000416617 human ensembl 74_37 -1 known missense c.330 p.E110D 0.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 tier1 - - 40 0 0.00 13 3 18.75 ISX 0 genome.wustl.edu 37 22 35481479 35481479 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 22 35481479 35481479 G A SNP ISX ENST00000308700 human ensembl 74_37 +1 known silent c.531 p.R177 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ISX HGNC ENSG00000175329 tier1 - - 37 0 0.00 14 3 17.65 ITIH2 0 genome.wustl.edu 37 10 7759658 7759658 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 7759658 7759658 C T SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known silent c.537 p.F179 0.999 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 56 0 0.00 30 2 6.25 JRKL 0 genome.wustl.edu 37 11 96125281 96125281 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 96125281 96125281 G T SNP JRKL ENST00000332349 human ensembl 74_37 +1 known missense c.1468 p.D490Y 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC ENSG00000183340 tier1 - - 27 0 0.00 18 4 18.18 KCNG2 0 genome.wustl.edu 37 18 77659371 77659371 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 18 77659371 77659371 C T SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.956 p.A319V 1.000 pfam_Ion_trans_dom 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 tier1 - - 26 0 0.00 13 5 27.78 KCNJ12 0 genome.wustl.edu 37 17 21319751 21319751 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 21319751 21319751 A C SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.1097 p.K366T 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 113 0 0.00 44 13 22.81 KCNT2 0 genome.wustl.edu 37 1 196197421 196197421 + Missense_Mutation SNP T T A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 196197421 196197421 T A SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.3341 p.E1114V 0.991 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 78 0 0.00 32 17 34.69 KCNT2 0 genome.wustl.edu 37 1 196577475 196577475 + RNA SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 196577475 196577475 T C SNP KCNT2 ENST00000610076 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 58 0 0.00 13 6 30.00 KDM6A 0 genome.wustl.edu 37 X 44941852 44941852 + Missense_Mutation SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 44941852 44941852 A T SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.3197 p.D1066V 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 - - 80 0 0.00 42 7 14.29 KIAA0319 0 genome.wustl.edu 37 6 24566912 24566912 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 24566912 24566912 G A SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.2205 p.S735 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 49 0 0.00 16 3 15.79 KIAA1377 0 genome.wustl.edu 37 11 101833020 101833020 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 101833020 101833020 C T SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known silent c.1254 p.S418 0.871 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 tier1 - - 53 0 0.00 24 3 11.11 KIAA1614 0 genome.wustl.edu 37 1 180897674 180897674 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 180897674 180897674 C T SNP KIAA1614 ENST00000367588 human ensembl 74_37 +1 known silent c.1170 p.S390 1.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 tier1 - - 74 0 0.00 46 4 8.00 KIF1B 0 genome.wustl.edu 37 1 10421049 10421049 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 10421049 10421049 G T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.3980 p.R1327L 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 58 0 0.00 21 2 8.70 KIT 0 genome.wustl.edu 37 4 55592080 55592080 + Silent SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 55592080 55592080 G T SNP KIT ENST00000288135 human ensembl 74_37 +1 known silent c.1404 p.P468 0.004 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 43 0 0.00 16 4 20.00 KLF3 0 genome.wustl.edu 37 4 38696528 38696528 + Splice_Site SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 38696528 38696528 G T SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known splice_site c.856+1 e4+1 1.000 - - - no_errors KLF3 HGNC ENSG00000109787 tier1 - - 83 0 0.00 22 4 15.38 KLHL8 0 genome.wustl.edu 37 4 88085157 88085157 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 88085157 88085157 C A SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.1612 p.A538S 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 69 0 0.00 25 2 7.41 KLK15 0 genome.wustl.edu 37 19 51330365 51330365 + Missense_Mutation SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 51330365 51330365 C G SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.250 p.E84Q 1.000 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 KLK15 HGNC ENSG00000174562 tier1 - - 58 0 0.00 30 5 14.29 KMT2C 0 genome.wustl.edu 37 7 151851097 151851097 + Nonsense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 151851097 151851097 C A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.12445 p.E4149* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 47 0 0.00 27 7 20.59 KMT2E 0 genome.wustl.edu 37 7 104750965 104750965 + Frame_Shift_Del DEL C C - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 104750965 104750965 C - DEL KMT2E ENST00000257745 human ensembl 74_37 +1 known frame_shift_del c.3886 p.Q1296fs 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 46 0 0.00 16 2 11.11 KPRP 0 genome.wustl.edu 37 1 152732632 152732632 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 152732632 152732632 A G SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.568 p.S190G 0.001 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 65 0 0.00 30 5 14.29 KRT38 0 genome.wustl.edu 37 17 39597021 39597021 + Missense_Mutation SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 39597021 39597021 A T SNP KRT38 ENST00000246646 human ensembl 74_37 -1 known missense c.153 p.H51Q 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT38 HGNC ENSG00000171360 38 0 0.00 65 4 5.80 KRTAP10-9 0 genome.wustl.edu 37 21 46047294 46047294 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 21 46047294 46047294 C T SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known missense c.206 p.S69L 0.001 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 tier1 - - 257 0 0.00 84 7 7.69 KRTAP16-1 0 genome.wustl.edu 37 17 39464715 39464715 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 39464715 39464715 C A SNP KRTAP16-1 ENST00000391352 human ensembl 74_37 -1 known missense c.791 p.C264F 0.985 NULL NULL - no_errors KRTAP16-1 HGNC ENSG00000212657 tier1 - - 34 0 0.00 66 6 8.33 LAMA2 0 genome.wustl.edu 37 6 129380971 129380971 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 129380971 129380971 G T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.326 p.W109L 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 44 0 0.00 19 3 13.64 LAMB2 0 genome.wustl.edu 37 3 49168865 49168865 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 49168865 49168865 C T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.659 p.R220H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 tier1 - - 51 0 0.00 19 4 17.39 LAMTOR2 0 genome.wustl.edu 37 1 156028130 156028130 + Nonsense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 156028130 156028130 G T SNP LAMTOR2 ENST00000368305 human ensembl 74_37 +1 known nonsense c.346 p.E116* 1.000 NULL pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors LAMTOR2 HGNC ENSG00000116586 62 0 0.00 31 2 6.06 LAYN 0 genome.wustl.edu 37 11 111425943 111425943 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 111425943 111425943 G A SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.610 p.E204K 0.358 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 52 0 0.00 23 2 8.00 LCN9 0 genome.wustl.edu 37 9 138557718 138557718 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 138557718 138557718 T C SNP LCN9 ENST00000277526 human ensembl 74_37 +1 known missense c.487 p.S163P 0.000 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin - no_errors LCN9 HGNC ENSG00000148386 tier1 - - 48 0 0.00 15 6 28.57 LCP2 0 genome.wustl.edu 37 5 169702853 169702853 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 169702853 169702853 T G SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.200 p.K67T 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 tier1 - - 88 0 0.00 26 14 35.00 LINC00478 0 genome.wustl.edu 37 21 17442878 17442878 + RNA SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 21 17442878 17442878 C G SNP LINC00478 ENST00000602935 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00478 HGNC ENSG00000215386 tier1 - - 51 0 0.00 32 7 17.95 LINC00483 0 genome.wustl.edu 37 17 48844829 48844829 + RNA DEL A A - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 48844829 48844829 A - DEL LINC00483 ENST00000419688 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors LINC00483 HGNC ENSG00000167117 tier1 30 0 0.00 37 2 5.13 LOC101927345 0 genome.wustl.edu 37 1 143391834 143391834 + RNA SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 143391834 143391834 A C SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 299 0 0.00 128 26 16.88 LOC101929010 0 genome.wustl.edu 37 20 1617995 1617995 + RNA SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 1617995 1617995 A C SNP LOC101929010 ENST00000437384 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-77C3.3 Clone_based_vega_gene ENSG00000237914 tier1 - - 71 0 0.00 40 8 16.67 LOC101929232 0 genome.wustl.edu 37 15 29052118 29052118 + RNA SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 29052118 29052118 C T SNP LOC101929232 ENST00000562423 human ensembl 74_37 +1 putative rna NULL NULL 0.997 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier1 - - 118 0 0.00 48 6 11.11 LOC440905 0 genome.wustl.edu 37 2 130748048 130748048 + RNA SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 130748048 130748048 A G SNP LOC440905 ENST00000440931 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 tier1 - - 34 0 0.00 19 8 29.63 LRP1B 0 genome.wustl.edu 37 2 141130597 141130597 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 141130597 141130597 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10748 p.D3583G 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,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 - - 62 0 0.00 37 4 9.76 LRP2 0 genome.wustl.edu 37 2 170048427 170048427 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 170048427 170048427 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.8947 p.D2983N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 70 0 0.00 21 6 22.22 LRRC37A2 0 genome.wustl.edu 37 17 44626071 44626071 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 44626071 44626071 G T SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known missense c.3566 p.R1189M 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 tier1 - - 95 0 0.00 51 7 12.07 MAGEB5 0 genome.wustl.edu 37 X 26235707 26235707 + Silent SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 26235707 26235707 T C SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known silent c.289 p.L97 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 21 0 0.00 7 8 53.33 MAGED1 0 genome.wustl.edu 37 X 51644891 51644891 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 51644891 51644891 C T SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known silent c.2370 p.F790 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 tier1 - - 35 0 0.00 9 15 62.50 MAGEE1 0 genome.wustl.edu 37 X 75650471 75650471 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 75650471 75650471 A C SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.2148 p.E716D 0.085 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 31 0 0.00 5 4 44.44 MAGEE2 0 genome.wustl.edu 37 X 75004002 75004002 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 75004002 75004002 T G SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.885 p.K295N 0.925 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 - - 28 0 0.00 9 12 57.14 MAN2B1 0 genome.wustl.edu 37 19 12760229 12760229 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 12760229 12760229 G A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.2281 p.P761S 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,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 MAN2B1 HGNC ENSG00000104774 47 0 0.00 31 3 8.82 MAOB 0 genome.wustl.edu 37 X 43702992 43702992 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 43702992 43702992 A C SNP MAOB ENST00000378069 human ensembl 74_37 -1 known missense c.65 p.L22R 1.000 pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 tier1 - - 26 0 0.00 7 8 53.33 MAP3K12 0 genome.wustl.edu 37 12 53874997 53874997 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 53874997 53874997 G A SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.2549 p.A850V 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 tier1 - - 80 0 0.00 59 4 6.25 MAP3K5 0 genome.wustl.edu 37 6 136882733 136882733 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 136882733 136882733 C T SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.3925 p.E1309K 0.999 superfamily_SAM/pointed pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 53 0 0.00 10 3 23.08 MAP3K6 0 genome.wustl.edu 37 1 27682974 27682974 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 27682974 27682974 G A SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known missense c.3542 p.A1181V 0.130 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 tier1 - - 106 0 0.00 31 4 11.43 MCM9 0 genome.wustl.edu 37 6 119243248 119243248 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 119243248 119243248 G T SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known missense c.625 p.Q209K 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 37 0 0.00 26 2 7.14 MDGA2 0 genome.wustl.edu 37 14 47770715 47770715 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 47770715 47770715 A G SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.319 p.C107R 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 30 0 0.00 19 3 13.64 MDN1 0 genome.wustl.edu 37 6 90388401 90388401 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 90388401 90388401 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.12329 p.E4110G 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 88 0 0.00 38 4 9.52 MED14 0 genome.wustl.edu 37 X 40588605 40588606 + RNA INS - - A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 40588605 40588606 - A INS MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 tier1 24 0 0.00 13 4 23.53 MFAP3L 0 genome.wustl.edu 37 4 170913139 170913139 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 170913139 170913139 C A SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known missense c.620 p.R207L 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 tier1 - - 35 0 0.00 10 6 37.50 MIR320B2 0 genome.wustl.edu 37 1 224444737 224444738 + RNA INS - - T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 224444737 224444738 - T INS MIR320B2 ENST00000408479 human ensembl 74_37 -1 known rna NULL NULL 0.014:0.020 - - - no_errors MIR320B2 HGNC ENSG00000221406 tier1 87 0 0.00 23 3 11.54 MIR376C 0 genome.wustl.edu 37 14 101506034 101506034 + RNA DEL G G - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 101506034 101506034 G - DEL MIR376C ENST00000607441 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR376C HGNC ENSG00000271946 tier1 57 0 0.00 16 2 11.11 MKI67 0 genome.wustl.edu 37 10 129904470 129904470 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 129904470 129904470 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.5634 p.K1878 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 - - 177 0 0.00 50 17 25.37 MKKS 0 genome.wustl.edu 37 20 10389433 10389433 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 10389433 10389433 G T SNP MKKS ENST00000347364 human ensembl 74_37 -1 known missense c.1004 p.S335Y 0.990 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors MKKS HGNC ENSG00000125863 tier1 - - 45 0 0.00 17 3 15.00 MKL2 0 genome.wustl.edu 37 16 14311020 14311020 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 14311020 14311020 G T SNP MKL2 ENST00000341243 human ensembl 74_37 +1 known missense c.357 p.M119I 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL2 HGNC ENSG00000186260 48 0 0.00 29 2 6.45 MOCS3 0 genome.wustl.edu 37 20 49575380 49575380 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 49575380 49575380 A G SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known missense c.1 p.M1V 0.932 NULL pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 tier1 - - 18 0 0.00 10 10 50.00 MPDU1 0 genome.wustl.edu 37 17 7489092 7489092 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 7489092 7489092 G A SNP MPDU1 ENST00000250124 human ensembl 74_37 +1 known missense c.146 p.G49D 1.000 pirsf_MannP-dilichol_defect-1 smart_CTNS,pirsf_MannP-dilichol_defect-1 - no_errors MPDU1 HGNC ENSG00000129255 102 0 0.00 57 3 5.00 MPHOSPH9 0 genome.wustl.edu 37 12 123645738 123645738 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 123645738 123645738 C T SNP MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known missense c.2870 p.R957Q 0.975 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 tier1 rs199553878 - 118 0 0.00 39 9 18.75 MRPS2 0 genome.wustl.edu 37 9 138395457 138395457 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 138395457 138395457 G A SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.369 p.T123 0.081 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 tier1 - - 32 0 0.00 8 5 38.46 MTMR4 0 genome.wustl.edu 37 17 56584115 56584115 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 56584115 56584115 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.980 p.C327Y 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 tier1 - - 30 0 0.00 23 4 14.81 MUC16 0 genome.wustl.edu 37 19 9059236 9059236 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 9059236 9059236 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.28210 p.P9404S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 68 0 0.00 33 2 5.71 MUC6 0 genome.wustl.edu 37 11 1031851 1031853 + In_Frame_Del DEL GAC GAC - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 1031851 1031853 GAC - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.318_316 p.V106in_frame_del 0.984:0.977:0.367 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 78 0 0.00 26 10 27.78 MYEF2 0 genome.wustl.edu 37 15 48435245 48435245 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 48435245 48435245 T G SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known missense c.1663 p.K555Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 tier1 - - 36 0 0.00 14 4 22.22 MYH3 0 genome.wustl.edu 37 17 10533220 10533220 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 10533220 10533220 T C SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5597 p.Q1866R 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 55 0 0.00 30 3 9.09 MYH3 0 genome.wustl.edu 37 17 10555795 10555795 + Frame_Shift_Del DEL A A - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 10555795 10555795 A - DEL MYH3 ENST00000226209 human ensembl 74_37 -1 known frame_shift_del c.290 p.L97fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 73 0 0.00 17 2 10.53 MYO15A 0 genome.wustl.edu 37 17 18022798 18022798 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 18022798 18022798 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.684 p.G228 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 11 0 0.00 6 3 33.33 MYO5A 0 genome.wustl.edu 37 15 52700308 52700308 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 52700308 52700308 G T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.786 p.F262L 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 tier1 - - 48 0 0.00 18 3 14.29 MYO5B 0 genome.wustl.edu 37 18 47518679 47518679 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 18 47518679 47518679 C T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known silent c.735 p.E245 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 tier1 - - 101 0 0.00 47 9 16.07 NACA 0 genome.wustl.edu 37 12 57112579 57112579 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 57112579 57112579 G C SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.2735 p.S912C 0.001 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 tier1 - - 71 0 0.00 47 5 9.62 NCKAP5 0 genome.wustl.edu 37 2 133540288 133540288 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 133540288 133540288 T C SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4096 p.S1366G 0.996 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 35 0 0.00 9 6 40.00 NCOA1 0 genome.wustl.edu 37 2 24905949 24905949 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 24905949 24905949 G A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.484 p.V162M 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 49 0 0.00 18 2 10.00 NCOA2 0 genome.wustl.edu 37 8 71053578 71053578 + Nonsense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 71053578 71053578 G A SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known nonsense c.2869 p.Q957* 0.991 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 39 0 0.00 22 9 29.03 NEGR1 0 genome.wustl.edu 37 1 72163744 72163744 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 72163744 72163744 G A SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.614 p.A205V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 tier1 - - 103 0 0.00 42 7 14.29 NELL1 0 genome.wustl.edu 37 11 20939754 20939754 + Missense_Mutation SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 20939754 20939754 C G SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.630 p.I210M 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 43 0 0.00 25 3 10.34 NEUROD4 0 genome.wustl.edu 37 12 55421014 55421014 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 55421014 55421014 C T SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.791 p.S264F 1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 55 0 0.00 27 4 12.90 NLRP14 0 genome.wustl.edu 37 11 7071008 7071008 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 7071008 7071008 A C SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.2230 p.N744H 0.008 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 NLRP14 HGNC ENSG00000158077 94 0 0.00 39 3 7.14 NPIPB5 0 genome.wustl.edu 37 16 22503048 22503048 + RNA SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 22503048 22503048 C T SNP NPIPB5 ENST00000415654 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NPIPB5 HGNC ENSG00000243716 tier1 - - 61 0 0.00 36 4 10.00 NRG2 0 genome.wustl.edu 37 5 139422030 139422030 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 139422030 139422030 T C SNP NRG2 ENST00000545385 human ensembl 74_37 -1 known missense c.625 p.T209A 1.000 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 117 0 0.00 48 3 5.88 NUAK1 0 genome.wustl.edu 37 12 106466612 106466612 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 106466612 106466612 A G SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.589 p.F197L 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 tier1 - - 47 0 0.00 8 3 27.27 NUTM2G 0 genome.wustl.edu 37 9 99699643 99699643 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 99699643 99699643 G C SNP NUTM2G ENST00000372322 human ensembl 74_37 +1 known missense c.1280 p.S427T 0.527 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 tier1 - - 142 0 0.00 67 7 9.46 OGFOD1 0 genome.wustl.edu 37 16 56485558 56485558 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 56485558 56485558 G A SNP OGFOD1 ENST00000566157 human ensembl 74_37 +1 known missense c.34 p.A12T 0.014 NULL pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 70 0 0.00 31 3 8.82 OR10Q1 0 genome.wustl.edu 37 11 57995922 57995922 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 57995922 57995922 G A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known silent c.426 p.R142 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 tier1 - - 37 0 0.00 23 4 14.81 OR10R2 0 genome.wustl.edu 37 1 158449953 158449953 + Frame_Shift_Del DEL G G - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 158449953 158449953 G - DEL OR10R2 ENST00000368152 human ensembl 74_37 +1 known frame_shift_del c.286 p.V96fs 0.853 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 tier1 54 0 0.00 16 2 11.11 OR2M5 0 genome.wustl.edu 37 1 248308866 248308866 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 248308866 248308866 A G SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known silent c.417 p.K139 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M5 HGNC ENSG00000162727 tier1 - - 175 0 0.00 61 27 30.68 OR4B1 0 genome.wustl.edu 37 11 48239132 48239132 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 48239132 48239132 G A SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known missense c.771 p.M257I 0.060 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4B1 HGNC ENSG00000175619 tier1 - - 69 0 0.00 19 7 26.92 OR4C16 0 genome.wustl.edu 37 11 55340455 55340455 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 55340455 55340455 T G SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.852 p.I284M 1.000 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 OR4C16 HGNC ENSG00000181935 tier1 - - 44 0 0.00 5 12 70.59 OR4N4 0 genome.wustl.edu 37 15 22382738 22382738 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 22382738 22382738 A G SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.266 p.K89R 0.944 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 42 0 0.00 23 8 25.81 P2RY8 0 genome.wustl.edu 37 X 1584751 1584751 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 1584751 1584751 C T SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.701 p.R234H 0.886 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 tier1 - - 60 0 0.00 28 7 20.00 PAF1 0 genome.wustl.edu 37 19 39876775 39876775 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 39876775 39876775 G A SNP PAF1 ENST00000595564 human ensembl 74_37 -1 known missense c.1238 p.A413V 0.949 NULL pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 tier1 - - 38 0 0.00 12 3 20.00 PAFAH1B3 0 genome.wustl.edu 37 19 42806151 42806151 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 42806151 42806151 T G SNP PAFAH1B3 ENST00000262890 human ensembl 74_37 -1 known missense c.119 p.E40A 1.000 NULL NULL - no_errors PAFAH1B3 HGNC ENSG00000079462 tier1 - - 70 0 0.00 32 6 15.79 PAPPA2 0 genome.wustl.edu 37 1 176564689 176564689 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 176564689 176564689 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1949 p.A650V 0.998 NULL 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 - - 35 0 0.00 26 4 13.33 PAPPA2 0 genome.wustl.edu 37 1 176668488 176668488 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 176668488 176668488 A G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.2999 p.D1000G 0.975 superfamily_Fibronectin_type3 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 - - 60 0 0.00 21 4 16.00 PARP14 0 genome.wustl.edu 37 3 122433231 122433232 + Frame_Shift_Ins INS - - A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 3 122433231 122433232 - A INS PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_ins c.3955_3956 p.N1322fs 1.000:0.974 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 tier1 70 0 0.00 30 2 6.25 PCDHAC1 0 genome.wustl.edu 37 5 140306543 140306543 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 140306543 140306543 C T SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.66 p.L22 0.479 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 tier1 - - 79 0 0.00 27 8 22.86 PCK2 0 genome.wustl.edu 37 14 24567713 24567713 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 24567713 24567713 A G SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known missense c.490 p.M164V 1.000 pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 tier1 - - 47 0 0.00 9 3 25.00 PCLO 0 genome.wustl.edu 37 7 82595489 82595489 + Silent SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 82595489 82595489 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.3615 p.A1205 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 96 0 0.00 52 16 23.53 PCSK7 0 genome.wustl.edu 37 11 117078536 117078536 + RNA SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 117078536 117078536 C T SNP PCSK7 ENST00000533135 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PCSK7 HGNC ENSG00000160613 tier1 - - 162 0 0.00 62 14 18.42 PDE7A 0 genome.wustl.edu 37 8 66631622 66631622 + Nonsense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 66631622 66631622 C T SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known nonsense c.1352 p.W451* 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 tier1 - - 47 0 0.00 13 7 35.00 PDHA2 0 genome.wustl.edu 37 4 96761931 96761931 + Silent SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 96761931 96761931 T C SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known silent c.630 p.A210 0.927 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 77 0 0.00 24 6 19.35 PDHX 0 genome.wustl.edu 37 11 34953026 34953026 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 34953026 34953026 A G SNP PDHX ENST00000227868 human ensembl 74_37 +1 known missense c.236 p.K79R 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 tier1 - - 60 0 0.00 23 3 11.54 PGM3 0 genome.wustl.edu 37 6 83900566 83900566 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 83900566 83900566 T C SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.166 p.T56A 0.972 pfam_A-D-PHexomutase_a/b/a-I,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 tier1 - - 100 0 0.00 48 4 7.69 PKD1 0 genome.wustl.edu 37 16 2140000 2140000 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 2140000 2140000 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.12640 p.R4214C 0.993 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 66 0 0.00 22 4 15.38 PLD4 0 genome.wustl.edu 37 14 105395191 105395191 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 105395191 105395191 G T SNP PLD4 ENST00000392593 human ensembl 74_37 +1 known missense c.390 p.Q130H 0.889 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 106 0 0.00 50 3 5.66 PLEC 0 genome.wustl.edu 37 8 144994004 144994004 + Nonsense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 144994004 144994004 C A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known nonsense c.10396 p.E3466* 0.999 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 62 0 0.00 34 4 10.53 PLEKHM3 0 genome.wustl.edu 37 2 208795838 208795838 + Frame_Shift_Del DEL C C - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 208795838 208795838 C - DEL PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known frame_shift_del c.1698 p.K567fs 0.019 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 tier1 42 0 0.00 10 2 16.67 PLIN4 0 genome.wustl.edu 37 19 4512014 4512014 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 4512014 4512014 A G SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.1916 p.L639P 0.779 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 - - 107 0 0.00 45 4 8.16 PLK3 0 genome.wustl.edu 37 1 45269609 45269609 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 45269609 45269609 G T SNP PLK3 ENST00000372201 human ensembl 74_37 +1 known missense c.1171 p.A391S 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 tier1 - - 35 0 0.00 23 4 14.81 POC1B 0 genome.wustl.edu 37 12 89864263 89864263 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 89864263 89864263 C T SNP POC1B ENST00000313546 human ensembl 74_37 -1 known missense c.685 p.G229S 0.983 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC ENSG00000139323 tier1 - - 96 0 0.00 24 19 44.19 POLL 0 genome.wustl.edu 37 10 103345131 103345133 + In_Frame_Del DEL GGA GGA - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 103345131 103345133 GGA - DEL POLL ENST00000299206 human ensembl 74_37 -1 known in_frame_del c.515_513 p.P172in_frame_del 0.001:0.008:0.028 NULL pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLL HGNC ENSG00000166169 tier1 98 0 0.00 47 3 6.00 PPIEL 0 genome.wustl.edu 37 1 40011415 40011415 + RNA SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 40011415 40011415 G A SNP PPIEL ENST00000417869 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-69E11.4 Clone_based_vega_gene ENSG00000182109 tier1 - - 104 0 0.00 55 4 6.78 PRAMEF6 0 genome.wustl.edu 37 1 13111576 13111576 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 13111576 13111576 A G SNP PRAMEF6 ENST00000376182 human ensembl 74_37 -1 known silent c.439 p.L147 0.007 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 9 0 0.00 1 4 80.00 PRDX6 0 genome.wustl.edu 37 1 173454533 173454533 + Nonsense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 173454533 173454533 G T SNP PRDX6 ENST00000340385 human ensembl 74_37 +1 known nonsense c.286 p.E96* 0.996 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX6 HGNC ENSG00000117592 73 0 0.00 39 3 7.14 PRSS21 0 genome.wustl.edu 37 16 2871376 2871376 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 2871376 2871376 G T SNP PRSS21 ENST00000005995 human ensembl 74_37 +1 known missense c.715 p.G239C 0.983 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS21 HGNC ENSG00000007038 tier1 - - 103 0 0.00 56 4 6.67 PVRL4 0 genome.wustl.edu 37 1 161044500 161044500 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 161044500 161044500 C T SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known missense c.901 p.G301S 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 tier1 - - 46 0 0.00 29 6 17.14 QRFPR 0 genome.wustl.edu 37 4 122250641 122250641 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 122250641 122250641 T G SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.1124 p.K375T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 65 0 0.00 15 13 46.43 RANBP17 0 genome.wustl.edu 37 5 170597179 170597179 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 170597179 170597179 C T SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.1756 p.H586Y 0.996 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 95 0 0.00 34 15 30.61 RAX 0 genome.wustl.edu 37 18 56939785 56939785 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 18 56939785 56939785 G A SNP RAX ENST00000334889 human ensembl 74_37 -1 known silent c.351 p.V117 0.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 tier1 - - 81 0 0.00 32 6 15.79 RERE 0 genome.wustl.edu 37 1 8557522 8557522 + Missense_Mutation SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 8557522 8557522 A T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.947 p.L316Q 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 60 0 0.00 28 2 6.67 RET 0 genome.wustl.edu 37 10 43615130 43615130 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 43615130 43615130 G C SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.2544 p.M848I 1.000 pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 73 0 0.00 27 4 12.90 RGL3 0 genome.wustl.edu 37 19 11529358 11529358 + Missense_Mutation SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 11529358 11529358 C G SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.136 p.G46R 0.077 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 tier1 - - 42 0 0.00 14 4 22.22 RGS13 0 genome.wustl.edu 37 1 192613467 192613467 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 192613467 192613467 G T SNP RGS13 ENST00000391995 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS13 HGNC ENSG00000127074 43 0 0.00 18 4 18.18 RNF122 0 genome.wustl.edu 37 8 33406936 33406936 + Frame_Shift_Del DEL A A - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 33406936 33406936 A - DEL RNF122 ENST00000256257 human ensembl 74_37 -1 known frame_shift_del c.345 p.H116fs 0.997 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF122 HGNC ENSG00000133874 tier1 45 0 0.00 27 2 6.90 ROBO3 0 genome.wustl.edu 37 11 124744730 124744730 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 124744730 124744730 G T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.1998 p.Q666H 0.862 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 tier1 - - 60 0 0.00 36 4 10.00 RP1L1 0 genome.wustl.edu 37 8 10479151 10479151 + RNA SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 10479151 10479151 A C SNP RP1L1 ENST00000329335 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 66 0 0.00 14 5 26.32 RTN2 0 genome.wustl.edu 37 19 45997939 45997939 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 45997939 45997939 C T SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.404 p.R135H 0.002 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 134 0 0.00 55 4 6.78 SAC3D1 0 genome.wustl.edu 37 11 64811901 64811901 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 64811901 64811901 G T SNP SAC3D1 ENST00000398846 human ensembl 74_37 +1 known missense c.779 p.R260L 0.870 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors SAC3D1 HGNC ENSG00000168061 67 0 0.00 45 3 6.25 SEC14L5 0 genome.wustl.edu 37 16 5038251 5038251 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 5038251 5038251 C T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known silent c.315 p.R105 0.148 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 - - 48 0 0.00 16 4 20.00 SEMA6D 0 genome.wustl.edu 37 15 48054408 48054408 + Missense_Mutation SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 48054408 48054408 T C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.550 p.Y184H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 58 0 0.00 17 6 26.09 SETBP1 0 genome.wustl.edu 37 18 42643107 42643107 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 18 42643107 42643107 G T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4235 p.R1412L 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 46 0 0.00 9 2 18.18 SHANK1 0 genome.wustl.edu 37 19 51169688 51169688 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 51169688 51169688 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.5553 p.G1851 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 tier1 - - 34 0 0.00 21 4 16.00 SIK3 0 genome.wustl.edu 37 11 116797979 116797979 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 11 116797979 116797979 G A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.572 p.A191V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 tier1 - - 79 0 0.00 33 4 10.81 SIMC1 0 genome.wustl.edu 37 5 175751685 175751685 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 175751685 175751685 C T SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known missense c.2039 p.T680I 1.000 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 tier1 - - 77 0 0.00 53 4 7.02 SLC28A1 0 genome.wustl.edu 37 15 85478705 85478705 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 85478705 85478705 G T SNP SLC28A1 ENST00000286749 human ensembl 74_37 +1 known missense c.1537 p.A513S 0.007 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A1 HGNC ENSG00000156222 tier1 - - 47 0 0.00 27 4 12.90 SLC39A12 0 genome.wustl.edu 37 10 18254526 18254526 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 18254526 18254526 G A SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.658 p.V220I 0.992 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 71 0 0.00 25 6 19.35 SLC7A1 0 genome.wustl.edu 37 13 30091410 30091410 + Silent SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 13 30091410 30091410 A T SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known silent c.1548 p.L516 0.022 pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 tier1 - - 30 0 0.00 10 3 23.08 SLCO1B3 0 genome.wustl.edu 37 12 21028386 21028386 + Frame_Shift_Del DEL A A - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 21028386 21028386 A - DEL SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known frame_shift_del c.945 p.N317fs 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 91 0 0.00 36 2 5.26 SMARCA1 0 genome.wustl.edu 37 X 128633806 128633806 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 128633806 128633806 A C SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.1180 p.F394V 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 tier1 - - 34 0 0.00 8 3 27.27 SMDT1 0 genome.wustl.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 22 42478046 42478048 GAT - DEL SMDT1 ENST00000331479 human ensembl 74_37 +1 known in_frame_del c.304_306 p.D105in_frame_del 1.000:1.000:0.998 pfam_UPF0466 pfam_UPF0466 - no_errors SMDT1 HGNC ENSG00000183172 tier1 62 0 0.00 32 4 11.11 SND1 0 genome.wustl.edu 37 7 127729559 127729559 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 127729559 127729559 G A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.2437 p.A813T 1.000 superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 tier1 - - 72 0 0.00 32 7 17.95 SPATA31A6 0 genome.wustl.edu 37 9 43625456 43625456 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 43625456 43625456 G T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.3231 p.S1077R 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 292 0 0.00 108 21 16.28 SPATA31D1 0 genome.wustl.edu 37 9 84609276 84609276 + Silent SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 84609276 84609276 G C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.3891 p.V1297 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 75 0 0.00 23 2 8.00 SPG11 0 genome.wustl.edu 37 15 44952662 44952662 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 15 44952662 44952662 G A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.410 p.A137V 0.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 56 0 0.00 32 5 13.51 SPRED3 0 genome.wustl.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 38882864 38882866 CCT - DEL SPRED3 ENST00000338502 human ensembl 74_37 +1 known in_frame_del c.359_361 p.S124in_frame_del 1.000:0.995:0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 tier1 29 0 0.00 27 4 12.90 SPTA1 0 genome.wustl.edu 37 1 158584068 158584068 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 158584068 158584068 G C SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6817 p.L2273V 0.018 pfscan_EF_hand_dom pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 82 0 0.00 34 11 24.44 ST7L 0 genome.wustl.edu 37 1 113159540 113159540 + RNA SNP A A T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 113159540 113159540 A T SNP ST7L ENST00000485753 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ST7L HGNC ENSG00000007341 tier1 - - 72 0 0.00 25 14 35.90 SULF1 0 genome.wustl.edu 37 8 70476244 70476244 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 70476244 70476244 G T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.34 p.V12F 0.997 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 70 0 0.00 57 8 12.31 SUPT6H 0 genome.wustl.edu 37 17 27027397 27027397 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 27027397 27027397 A C SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.4673 p.N1558T 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 tier1 - - 58 0 0.00 23 4 14.81 SVIL 0 genome.wustl.edu 37 10 29747401 29747401 + Missense_Mutation SNP G G C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 29747401 29747401 G C SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.6520 p.L2174V 1.000 superfamily_Villin_headpiece,pfscan_Villin_headpiece pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 37 0 0.00 10 2 16.67 SYCP2L 0 genome.wustl.edu 37 6 10887362 10887362 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 10887362 10887362 G T SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known missense c.3 p.M1I 0.105 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 116 0 0.00 38 3 7.32 SYNE1 0 genome.wustl.edu 37 6 152771897 152771897 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 152771897 152771897 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.3258 p.V1086 0.792 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 63 0 0.00 38 4 9.52 SYT16 0 genome.wustl.edu 37 14 62550971 62550971 + Frame_Shift_Del DEL A A - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 62550971 62550971 A - DEL SYT16 ENST00000430451 human ensembl 74_37 +1 novel frame_shift_del c.1492 p.T498fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 tier1 65 0 0.00 15 2 11.76 SYT5 0 genome.wustl.edu 37 19 55686690 55686690 + Silent SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 55686690 55686690 C A SNP SYT5 ENST00000354308 human ensembl 74_37 -1 known silent c.558 p.L186 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT5 HGNC ENSG00000129990 tier1 - - 50 0 0.00 31 7 17.95 TCEB3CL2 0 genome.wustl.edu 37 18 44543396 44543396 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 18 44543396 44543396 A G SNP TCEB3CL2 ENST00000591973 human ensembl 74_37 -1 known missense c.976 p.S326P 0.007 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC ENSG00000266996 tier1 - - 56 0 0.00 23 6 20.69 TCOF1 0 genome.wustl.edu 37 5 149776309 149776309 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 149776309 149776309 G A SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.4357 p.E1453K 0.958 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 102 0 0.00 37 2 5.00 TCTN3 0 genome.wustl.edu 37 10 97453624 97453624 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 97453624 97453624 C T SNP TCTN3 ENST00000371217 human ensembl 74_37 -1 known silent c.33 p.V11 0.936 NULL pfam_DUF1619 - no_errors TCTN3 HGNC ENSG00000119977 tier1 - - 71 0 0.00 24 9 25.71 TENM3 0 genome.wustl.edu 37 4 183694653 183694653 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 4 183694653 183694653 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.4921 p.V1641I 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 79 0 0.00 20 4 16.67 TFR2 0 genome.wustl.edu 37 7 100238621 100238621 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 100238621 100238621 C T SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known silent c.264 p.T88 0.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 tier1 - - 64 0 0.00 49 6 10.91 THBS4 0 genome.wustl.edu 37 5 79351798 79351798 + Silent SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 79351798 79351798 T C SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.483 p.A161 0.939 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 tier1 - - 26 0 0.00 11 3 21.43 THRA 0 genome.wustl.edu 37 17 38241009 38241009 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 38241009 38241009 G A SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.517 p.E173K 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ThyrH_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 tier1 - - 34 0 0.00 57 24 29.63 TIMELESS 0 genome.wustl.edu 37 12 56815246 56815246 + Silent SNP T T C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 56815246 56815246 T C SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.2757 p.T919 0.997 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 32 0 0.00 11 4 26.67 TMPRSS15 0 genome.wustl.edu 37 21 19685373 19685373 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 21 19685373 19685373 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2054 p.T685M 0.000 pfam_SRCR,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 tier1 - - 62 0 0.00 23 6 20.69 TNFAIP6 0 genome.wustl.edu 37 2 152214210 152214210 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 152214210 152214210 G T SNP TNFAIP6 ENST00000243347 human ensembl 74_37 +1 known missense c.30 p.L10F 1.000 NULL pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 75 0 0.00 30 2 6.25 TOP3A 0 genome.wustl.edu 37 17 18181536 18181536 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 18181536 18181536 G A SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known silent c.2280 p.S760 0.989 NULL pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 77 0 0.00 41 4 8.89 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 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 rs28934578 - 44 0 0.00 16 13 44.83 TRDMT1 0 genome.wustl.edu 37 10 17195487 17195487 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 17195487 17195487 C T SNP TRDMT1 ENST00000488990 human ensembl 74_37 -1 putative missense c.725 p.R242K 0.000 NULL pfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 tier1 - - 90 0 0.00 38 12 24.00 TRIM8 0 genome.wustl.edu 37 10 104416539 104416539 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 104416539 104416539 G A SNP TRIM8 ENST00000302424 human ensembl 74_37 +1 known missense c.1084 p.V362I 0.958 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 tier1 - - 48 0 0.00 28 8 22.22 TRIOBP 0 genome.wustl.edu 37 22 38120335 38120335 + Missense_Mutation SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 22 38120335 38120335 A G SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.1772 p.N591S 0.002 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 364 0 0.00 125 7 5.30 TRIP12 0 genome.wustl.edu 37 2 230678737 230678737 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 230678737 230678737 G A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.1691 p.A564V 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 67 0 0.00 22 3 12.00 TRPA1 0 genome.wustl.edu 37 8 72966069 72966069 + Silent SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 72966069 72966069 C A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.1563 p.A521 0.834 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 49 0 0.00 30 15 33.33 TSGA10 0 genome.wustl.edu 37 2 99743565 99743565 + RNA SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 99743565 99743565 C T SNP TSGA10 ENST00000476849 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 97 0 0.00 42 4 8.70 TSPAN9 0 genome.wustl.edu 37 12 3390494 3390494 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 12 3390494 3390494 C T SNP TSPAN9 ENST00000011898 human ensembl 74_37 +1 known missense c.563 p.T188M 0.996 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN9 HGNC ENSG00000011105 tier1 - - 89 0 0.00 38 5 11.63 TTC1 0 genome.wustl.edu 37 5 159437569 159437569 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 159437569 159437569 G A SNP TTC1 ENST00000231238 human ensembl 74_37 +1 known missense c.34 p.E12K 0.999 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC1 HGNC ENSG00000113312 tier1 - - 69 0 0.00 19 4 17.39 TTC18 0 genome.wustl.edu 37 10 75056899 75056899 + Nonsense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 75056899 75056899 G T SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known nonsense c.1755 p.Y585* 0.833 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 63 0 0.00 21 2 8.70 TTC3 0 genome.wustl.edu 37 21 38460554 38460554 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 21 38460554 38460554 C T SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known silent c.246 p.C82 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 tier1 - - 57 0 0.00 18 13 41.94 TTF1 0 genome.wustl.edu 37 9 135273587 135273587 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 135273587 135273587 G A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.1718 p.P573L 0.991 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 100 0 0.00 29 3 9.38 TUBA3C 0 genome.wustl.edu 37 13 19748175 19748175 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 13 19748175 19748175 T G SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.1181 p.K394T 1.000 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 106 0 0.00 50 7 12.28 TWIST1 0 genome.wustl.edu 37 7 19156445 19156445 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 19156445 19156445 T G SNP TWIST1 ENST00000242261 human ensembl 74_37 -1 known missense c.500 p.E167A 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TWIST1 HGNC ENSG00000122691 tier1 - - 60 0 0.00 28 11 28.21 TXNDC15 0 genome.wustl.edu 37 5 134229230 134229230 + Missense_Mutation SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 5 134229230 134229230 C A SNP TXNDC15 ENST00000358387 human ensembl 74_37 +1 known missense c.640 p.L214M 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC15 HGNC ENSG00000113621 tier1 - - 99 0 0.00 35 4 10.26 USP11 0 genome.wustl.edu 37 X 47104088 47104088 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 47104088 47104088 C T SNP USP11 ENST00000218348 human ensembl 74_37 +1 known silent c.1980 p.D660 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 tier1 rs144034150 - 27 0 0.00 10 3 23.08 USP17L2 0 genome.wustl.edu 37 8 11995085 11995085 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 11995085 11995085 G A SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known silent c.1185 p.G395 0.000 pfam_HABP4_PAIRBP1-bd pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 tier1 - - 263 0 0.00 118 12 9.23 USP32P1 0 genome.wustl.edu 37 17 16706720 16706720 + RNA SNP C C A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 17 16706720 16706720 C A SNP USP32P1 ENST00000341745 human ensembl 74_37 +1 known rna NULL NULL 0.214 - - - no_errors USP32P1 HGNC ENSG00000188933 tier1 - - 179 0 0.00 100 11 9.91 UTRN 0 genome.wustl.edu 37 6 144858790 144858790 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 6 144858790 144858790 G T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.6306 p.K2102N 0.159 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 tier1 - - 68 0 0.00 38 4 9.52 VIL1 0 genome.wustl.edu 37 2 219301231 219301231 + Frame_Shift_Del DEL C C - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 2 219301231 219301231 C - DEL VIL1 ENST00000248444 human ensembl 74_37 +1 known frame_shift_del c.1853 p.R620fs 0.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 tier1 59 0 0.00 24 2 7.69 VPS26A 0 genome.wustl.edu 37 10 70930990 70930990 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 10 70930990 70930990 G A SNP VPS26A ENST00000263559 human ensembl 74_37 +1 known missense c.949 p.E317K 1.000 NULL pfam_VPS26 - no_errors VPS26A HGNC ENSG00000122958 tier1 - - 52 0 0.00 31 4 11.43 VWA5B1 0 genome.wustl.edu 37 1 20644148 20644148 + Frame_Shift_Del DEL G G - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 20644148 20644148 G - DEL VWA5B1 ENST00000289815 human ensembl 74_37 +1 known frame_shift_del c.689 p.R230fs 0.996 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 tier1 51 0 0.00 15 2 11.76 VWA5B1 0 genome.wustl.edu 37 1 20662937 20662937 + Frame_Shift_Del DEL A A - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 20662937 20662937 A - DEL VWA5B1 ENST00000289815 human ensembl 74_37 +1 known frame_shift_del c.1900 p.N635fs 0.007 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 tier1 27 0 0.00 10 2 16.67 WBSCR17 0 genome.wustl.edu 37 7 71135008 71135008 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 71135008 71135008 A C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1318 p.S440R 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 77 0 0.00 38 13 25.49 WDR34 0 genome.wustl.edu 37 9 131403128 131403128 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 9 131403128 131403128 C T SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known missense c.277 p.V93M 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR34 HGNC ENSG00000119333 tier1 - - 55 0 0.00 17 5 22.73 WDR62 0 genome.wustl.edu 37 19 36562584 36562584 + Missense_Mutation SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 36562584 36562584 C G SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.1009 p.L337V 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 tier1 - - 42 0 0.00 21 13 38.24 WDR64 0 genome.wustl.edu 37 1 241934999 241934999 + Missense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 1 241934999 241934999 G T SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known missense c.2260 p.G754C 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 54 0 0.00 30 2 6.25 WEE2 0 genome.wustl.edu 37 7 141424037 141424037 + Nonsense_Mutation SNP G G T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 141424037 141424037 G T SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known nonsense c.1183 p.G395* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 tier1 - - 45 0 0.00 32 4 11.11 WHSC1L1 0 genome.wustl.edu 37 8 38137195 38137195 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 38137195 38137195 C T SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.3623 p.R1208H 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 - - 94 0 0.00 47 5 9.43 XIST 0 genome.wustl.edu 37 X 73067337 73067337 + RNA SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 73067337 73067337 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors XIST HGNC ENSG00000229807 10 0 0.00 7 3 30.00 XRCC6 0 genome.wustl.edu 37 22 42032238 42032238 + Splice_Site SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 22 42032238 42032238 A G SNP XRCC6 ENST00000402580 human ensembl 74_37 +1 novel splice_site c.196-2 e3-2 1.000 - - - no_errors XRCC6 HGNC ENSG00000196419 tier1 - - 81 0 0.00 34 4 10.53 ZBTB46 0 genome.wustl.edu 37 20 62422008 62422008 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 20 62422008 62422008 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.103 p.V35M 0.219 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 18 0 0.00 8 3 27.27 ZCCHC12 0 genome.wustl.edu 37 X 117959806 117959806 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 X 117959806 117959806 C T SNP ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known missense c.599 p.A200V 0.994 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 29 0 0.00 32 4 11.11 ZFP82 0 genome.wustl.edu 37 19 36883755 36883755 + Missense_Mutation SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 36883755 36883755 T G SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.1487 p.H496P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP82 HGNC ENSG00000181007 tier1 - - 88 0 0.00 42 15 26.32 ZFP90 0 genome.wustl.edu 37 16 68598462 68598462 + Missense_Mutation SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 16 68598462 68598462 G A SNP ZFP90 ENST00000398253 human ensembl 74_37 +1 known missense c.1772 p.R591Q 0.099 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 ZFP90 HGNC ENSG00000184939 77 0 0.00 35 2 5.41 ZFPM2 0 genome.wustl.edu 37 8 106646475 106646475 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 8 106646475 106646475 A C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.422 p.K141T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 59 0 0.00 38 15 28.30 ZFYVE21 0 genome.wustl.edu 37 14 104194146 104194146 + Missense_Mutation SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 14 104194146 104194146 C T SNP ZFYVE21 ENST00000216602 human ensembl 74_37 +1 known missense c.253 p.R85W 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE21 HGNC ENSG00000100711 tier1 - - 61 0 0.00 25 4 13.79 ZNF138 0 genome.wustl.edu 37 7 64293429 64293430 + RNA DEL TA TA - TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 7 64293429 64293430 TA - DEL ZNF138 ENST00000430838 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ZNF138 HGNC ENSG00000197008 tier1 74 0 0.00 33 2 5.71 ZNF254 0 genome.wustl.edu 37 19 24310680 24310680 + Silent SNP A A G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 24310680 24310680 A G SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known silent c.1878 p.G626 0.997 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 ZNF254 HGNC ENSG00000213096 tier1 - - 60 0 0.00 31 6 16.22 ZNF266 0 genome.wustl.edu 37 19 9524071 9524071 + Missense_Mutation SNP A A C TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 9524071 9524071 A C SNP ZNF266 ENST00000361151 human ensembl 74_37 -1 known missense c.1530 p.H510Q 0.091 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF266 HGNC ENSG00000174652 79 0 0.00 28 3 9.68 ZNF559-ZNF177 0 genome.wustl.edu 37 19 9448586 9448586 + RNA SNP T T G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 9448586 9448586 T G SNP ZNF559-ZNF177 ENST00000605301 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF177 Uniprot_gn ENSG00000270011 tier1 - - 57 0 0.00 16 8 33.33 ZNF675 0 genome.wustl.edu 37 19 23836558 23836558 + Missense_Mutation SNP C C G TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 23836558 23836558 C G SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.1177 p.E393Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 tier1 - - 99 0 0.00 38 6 13.64 ZNF880 0 genome.wustl.edu 37 19 52876492 52876492 + Splice_Site SNP T T A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c63e7bd8-4fcd-42af-9df4-5403e90653ae ba900120-b0b0-4733-8a20-d6f83a03b0d0 19 52876492 52876492 T A SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known splice_site c.139+2 e2+2 0.876 - - - no_errors ZNF880 HGNC ENSG00000221923 tier1 - - 98 0 0.00 60 4 6.25