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 ABCA3 0 genome.wustl.edu 37 16 2336799 2336799 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 2336799 2336799 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.3174 p.D1058 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 69 0 0.00 71 4 5.26 ABCB11 0 genome.wustl.edu 37 2 169842731 169842731 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 169842731 169842731 G T SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.972 p.F324L 0.998 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 59 0 0.00 47 3 6.00 ABCB6 0 genome.wustl.edu 37 2 220077768 220077768 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 220077768 220077768 C T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.1825 p.V609M 0.716 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 45 0 0.00 32 2 5.88 ABCC13 0 genome.wustl.edu 37 21 15659985 15659985 + RNA SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 21 15659985 15659985 A C SNP ABCC13 ENST00000482980 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors ABCC13 HGNC ENSG00000243064 tier1 - - 58 0 0.00 35 26 42.62 ACSL1 0 genome.wustl.edu 37 4 185683562 185683562 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 185683562 185683562 G T SNP ACSL1 ENST00000281455 human ensembl 74_37 -1 known missense c.1637 p.P546Q 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL1 HGNC ENSG00000151726 67 0 0.00 32 4 11.11 ADAMTS9 0 genome.wustl.edu 37 3 64599178 64599178 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 64599178 64599178 A C SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.3197 p.V1066G 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 77 0 0.00 22 14 38.89 ADCY6 0 genome.wustl.edu 37 12 49176989 49176989 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 49176989 49176989 C T SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.229 p.G77S 0.678 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 tier1 - - 35 0 0.00 21 8 27.59 ADH7 0 genome.wustl.edu 37 4 100349749 100349749 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 100349749 100349749 C T SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known silent c.195 p.V65 0.004 pfam_ADH_GroES-like,superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 52 0 0.00 31 2 6.06 ALK 0 genome.wustl.edu 37 2 29451833 29451833 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 29451833 29451833 T C SNP ALK ENST00000389048 human ensembl 74_37 -1 known missense c.2732 p.K911R 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 tier1 - - 107 0 0.00 61 18 22.78 ALK 0 genome.wustl.edu 37 2 29420535 29420535 + Nonsense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 29420535 29420535 C A SNP ALK ENST00000389048 human ensembl 74_37 -1 known nonsense c.3946 p.G1316* 1.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 32 0 0.00 37 5 11.90 ALPK3 0 genome.wustl.edu 37 15 85401174 85401174 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 85401174 85401174 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.3811 p.L1271F 0.677 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 104 0 0.00 65 10 13.33 ALS2CR11 0 genome.wustl.edu 37 2 202352531 202352531 + Nonsense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 202352531 202352531 G T SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known nonsense c.1676 p.S559* 0.126 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 tier1 - - 87 0 0.00 59 4 6.35 AMPD1 0 genome.wustl.edu 37 1 115229428 115229428 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 115229428 115229428 G T SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.418 p.P140T 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 90 0 0.00 51 3 5.56 ANGPTL2 0 genome.wustl.edu 37 9 129870853 129870853 + Missense_Mutation SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 129870853 129870853 T A SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known missense c.158 p.K53M 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 tier1 - - 46 0 0.00 22 4 15.38 ANKRD28 0 genome.wustl.edu 37 3 15765924 15765924 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 15765924 15765924 T C SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.757 p.S253G 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 tier1 - - 58 0 0.00 17 10 37.04 ANKRD36BP2 0 genome.wustl.edu 37 2 89104066 89104066 + RNA SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 89104066 89104066 T G SNP ANKRD36BP2 ENST00000393525 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 - - 180 0 0.00 162 41 20.20 ANP32A 0 genome.wustl.edu 37 15 69080148 69080148 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 69080148 69080148 G A SNP ANP32A ENST00000465139 human ensembl 74_37 -1 known silent c.165 p.T55 1.000 NULL pfam_Leu-rich_rpt,smart_U2A'_phosphoprotein32A_C - no_errors ANP32A HGNC ENSG00000140350 tier1 - - 81 0 0.00 65 13 16.67 ANTXR2 0 genome.wustl.edu 37 4 80905107 80905107 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 80905107 80905107 C A SNP ANTXR2 ENST00000307333 human ensembl 74_37 -1 known missense c.1104 p.L368F 0.375 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 95 0 0.00 49 3 5.77 AOC1 0 genome.wustl.edu 37 7 150556986 150556986 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 150556986 150556986 G A SNP AOC1 ENST00000480582 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors AOC1 HGNC ENSG00000002726 tier1 - - 24 0 0.00 10 8 44.44 AOC3 0 genome.wustl.edu 37 17 41006518 41006518 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 41006518 41006518 C T SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1654 p.P552S 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 95 0 0.00 73 4 5.19 AOX2P 0 genome.wustl.edu 37 2 201619757 201619758 + RNA INS - - TG TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 201619757 201619758 - TG INS AOX2P ENST00000472376 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AOX2P HGNC ENSG00000243478 tier1 16 0 0.00 12 3 20.00 ARPC5 0 genome.wustl.edu 37 1 183596623 183596623 + RNA SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 183596623 183596623 C T SNP ARPC5 ENST00000462965 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ARPC5 HGNC ENSG00000162704 tier1 - - 95 0 0.00 66 4 5.71 ARVCF 0 genome.wustl.edu 37 22 19960775 19960775 + Frame_Shift_Del DEL C C - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 19960775 19960775 C - DEL ARVCF ENST00000263207 human ensembl 74_37 -1 known frame_shift_del c.2305 p.A769fs 0.989 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 47 0 0.00 24 2 7.69 ASNS 0 genome.wustl.edu 37 7 97493682 97493682 + Missense_Mutation SNP G G C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 97493682 97493682 G C SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.376 p.L126V 1.000 pfam_GATase_dom,tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 tier1 - - 52 0 0.00 38 4 9.52 ATP10A 0 genome.wustl.edu 37 15 25959376 25959376 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 25959376 25959376 A C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1789 p.F597V 0.997 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 - - 82 0 0.00 45 13 22.41 ATP11B 0 genome.wustl.edu 37 3 182584151 182584151 + Nonsense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 182584151 182584151 G A SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known nonsense c.1539 p.W513* 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP11B HGNC ENSG00000058063 tier1 - - 58 0 0.00 15 29 65.91 ATP13A2 0 genome.wustl.edu 37 1 17322367 17322368 + RNA INS - - GCCA TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 17322367 17322368 - GCCA INS ATP13A2 ENST00000502860 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATP13A2 HGNC ENSG00000159363 tier1 88 0 0.00 46 8 14.81 ATP1A1 0 genome.wustl.edu 37 1 116944182 116944182 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 116944182 116944182 G T SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.2856 p.K952N 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 77 0 0.00 41 3 6.82 ATRNL1 0 genome.wustl.edu 37 10 117059700 117059700 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 117059700 117059700 T C SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known silent c.2572 p.L858 0.845 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 73 0 0.00 35 14 28.57 ATXN1L 0 genome.wustl.edu 37 16 71885321 71885321 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 71885321 71885321 A G SNP ATXN1L ENST00000427980 human ensembl 74_37 +1 known missense c.1678 p.T560A 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1L HGNC ENSG00000224470 tier1 - - 66 0 0.00 61 4 6.15 AVP 0 genome.wustl.edu 37 20 3063287 3063287 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 3063287 3063287 C T SNP AVP ENST00000380293 human ensembl 74_37 -1 known missense c.484 p.D162N 0.130 NULL pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm - no_errors AVP HGNC ENSG00000101200 tier1 - - 26 0 0.00 12 4 25.00 AZI2 0 genome.wustl.edu 37 3 28380096 28380096 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 28380096 28380096 C T SNP AZI2 ENST00000479665 human ensembl 74_37 -1 known missense c.227 p.R76Q 0.446 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 tier1 - - 106 0 0.00 38 12 24.00 BFAR 0 genome.wustl.edu 37 16 14738314 14738314 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 14738314 14738314 C T SNP BFAR ENST00000261658 human ensembl 74_37 +1 known silent c.111 p.C37 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 tier1 - - 72 0 0.00 68 4 5.56 BRINP1 0 genome.wustl.edu 37 9 121930039 121930039 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 121930039 121930039 A C SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1609 p.F537V 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 34 0 0.00 20 5 20.00 BRINP1 0 genome.wustl.edu 37 9 121930218 121930218 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 121930218 121930218 A C SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1430 p.F477C 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 22 0 0.00 10 11 52.38 C10orf12 0 genome.wustl.edu 37 10 98744778 98744778 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 98744778 98744778 C T SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.3631 p.R1211W 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 38 0 0.00 24 2 7.69 C11orf34 0 genome.wustl.edu 37 11 112126167 112126167 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 112126167 112126167 G T SNP C11orf34 ENST00000338832 human ensembl 74_37 -1 known silent c.330 p.V110 0.000 NULL NULL - no_errors C11orf34 HGNC ENSG00000188771 tier1 - - 97 0 0.00 50 14 21.88 C2orf62 0 genome.wustl.edu 37 2 219227598 219227598 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 219227598 219227598 C T SNP C2orf62 ENST00000289388 human ensembl 74_37 +1 known silent c.603 p.T201 0.008 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 tier1 rs200618385 - 62 0 0.00 48 12 20.00 C3orf70 0 genome.wustl.edu 37 3 184870467 184870467 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 184870467 184870467 G T SNP C3orf70 ENST00000335012 human ensembl 74_37 -1 known missense c.145 p.H49N 1.000 NULL NULL - no_errors C3orf70 HGNC ENSG00000187068 tier1 - - 63 0 0.00 37 4 9.76 C5orf42 0 genome.wustl.edu 37 5 37176061 37176061 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 37176061 37176061 C T SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known silent c.5928 p.G1976 0.212 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 84 0 0.00 72 4 5.26 CACNA1B 0 genome.wustl.edu 37 9 140773593 140773593 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 140773593 140773593 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.372 p.T124 0.754 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 tier1 - - 65 0 0.00 40 14 25.45 CACNA1F 0 genome.wustl.edu 37 X 49069170 49069170 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 49069170 49069170 T C SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.3932 p.E1311G 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 35 0 0.00 34 4 10.53 CAPN5 0 genome.wustl.edu 37 11 76834840 76834840 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 76834840 76834840 A G SNP CAPN5 ENST00000278559 human ensembl 74_37 +1 known missense c.1847 p.N616S 0.163 smart_C2_dom pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN5 HGNC ENSG00000149260 tier1 - - 34 0 0.00 9 7 43.75 CBFA2T3 0 genome.wustl.edu 37 16 88945691 88945691 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 88945691 88945691 T G SNP CBFA2T3 ENST00000268679 human ensembl 74_37 -1 known missense c.1649 p.E550A 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16 - no_errors CBFA2T3 HGNC ENSG00000129993 tier1 - - 152 0 0.00 128 23 15.23 CBX4 0 genome.wustl.edu 37 17 77808433 77808433 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 77808433 77808433 G A SNP CBX4 ENST00000269397 human ensembl 74_37 -1 known silent c.1008 p.S336 0.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 16 0 0.00 19 2 9.52 CCDC112 0 genome.wustl.edu 37 5 114632127 114632127 + Frame_Shift_Del DEL T T - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 114632127 114632127 T - DEL CCDC112 ENST00000379611 human ensembl 74_37 -1 known frame_shift_del c.114 p.Q38fs 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 tier1 23 0 0.00 6 2 25.00 CCDC87 0 genome.wustl.edu 37 11 66360163 66360163 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 66360163 66360163 G A SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known silent c.324 p.N108 0.853 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 56 0 0.00 33 2 5.71 CDH18 0 genome.wustl.edu 37 5 19721575 19721575 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 19721575 19721575 C T SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.524 p.G175D 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 43 0 0.00 44 10 18.52 CDH4 0 genome.wustl.edu 37 20 60427897 60427897 + Missense_Mutation SNP C C G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 60427897 60427897 C G SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.820 p.R274G 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 38 0 0.00 45 5 10.00 CDH4 0 genome.wustl.edu 37 20 60427900 60427900 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 60427900 60427900 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.823 p.P275S 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 38 0 0.00 48 6 11.11 CDH4 0 genome.wustl.edu 37 20 60427902 60427902 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 60427902 60427902 T C SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.825 p.P275 0.652 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 38 0 0.00 48 5 9.43 CDH6 0 genome.wustl.edu 37 5 31318054 31318054 + Silent SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 31318054 31318054 C A SNP CDH6 ENST00000514738 human ensembl 74_37 +1 putative silent c.1740 p.S580 0.995 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 44 0 0.00 19 9 32.14 CDK12 0 genome.wustl.edu 37 17 37667841 37667841 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 37667841 37667841 G T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.2726 p.G909V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 tier1 - - 53 0 0.00 22 259 92.17 CELSR3 0 genome.wustl.edu 37 3 48690521 48690521 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 48690521 48690521 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.5548 p.D1850N 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 rs146491964 - 72 0 0.00 36 16 30.77 CENPF 0 genome.wustl.edu 37 1 214803990 214803990 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 214803990 214803990 G T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.1308 p.Q436H 0.999 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 32 0 0.00 25 2 7.41 CERS3 0 genome.wustl.edu 37 15 100996237 100996237 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 100996237 100996237 G A SNP CERS3 ENST00000284382 human ensembl 74_37 -1 known missense c.860 p.T287M 0.992 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS3 HGNC ENSG00000154227 42 0 0.00 30 2 6.25 CES1 0 genome.wustl.edu 37 16 55860155 55860155 + Nonsense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 55860155 55860155 G A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known nonsense c.313 p.R105* 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 tier1 rs5023780 - 196 0 0.00 159 32 16.75 CFDP1 0 genome.wustl.edu 37 16 75327732 75327732 + RNA DEL A A - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 75327732 75327732 A - DEL CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 tier1 30 0 0.00 22 3 12.00 CHP2 0 genome.wustl.edu 37 16 23767039 23767039 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 23767039 23767039 A C SNP CHP2 ENST00000300113 human ensembl 74_37 +1 known missense c.125 p.K42T 0.306 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP2 HGNC ENSG00000166869 tier1 - - 118 0 0.00 59 17 22.37 CHRNG 0 genome.wustl.edu 37 2 233404837 233404837 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 233404837 233404837 C T SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.191 p.S64F 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 tier1 - - 65 0 0.00 51 21 29.17 CHST9 0 genome.wustl.edu 37 18 24496546 24496546 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 18 24496546 24496546 A C SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known missense c.1009 p.L337V 0.996 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 tier1 - - 66 0 0.00 31 21 40.38 CNTNAP3 0 genome.wustl.edu 37 9 39171488 39171488 + Missense_Mutation SNP G G C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 39171488 39171488 G C SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.1211 p.A404G 0.950 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 CNTNAP3 HGNC ENSG00000106714 tier1 - - 176 0 0.00 167 30 15.08 CPSF3 0 genome.wustl.edu 37 2 9583646 9583646 + Missense_Mutation SNP C C G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 9583646 9583646 C G SNP CPSF3 ENST00000238112 human ensembl 74_37 +1 known missense c.1098 p.H366Q 0.987 pfam_Beta_Casp pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3 HGNC ENSG00000119203 tier1 - - 68 0 0.00 44 11 20.00 CSMD1 0 genome.wustl.edu 37 8 2813255 2813255 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 2813255 2813255 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9853 p.A3285T 0.686 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 62 0 0.00 49 18 26.87 CSMD2 0 genome.wustl.edu 37 1 34066300 34066300 + RNA SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 34066300 34066300 A G SNP CSMD2 ENST00000489419 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 13 0 0.00 0 5 100.00 CST1 0 genome.wustl.edu 37 20 23728462 23728462 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 23728462 23728462 T C SNP CST1 ENST00000304749 human ensembl 74_37 -1 known silent c.417 p.Q139 0.001 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 tier1 - - 70 0 0.00 36 18 33.33 CTNNA2 0 genome.wustl.edu 37 2 80646693 80646693 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 80646693 80646693 A G SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1359 p.Q453 0.997 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 62 0 0.00 42 15 26.32 CTTNBP2 0 genome.wustl.edu 37 7 117358157 117358157 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 117358157 117358157 T C SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.4661 p.D1554G 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 tier1 - - 49 0 0.00 19 11 36.67 CXCR2P1 0 genome.wustl.edu 37 2 218925186 218925186 + RNA SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 218925186 218925186 T A SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXCR2P1 HGNC ENSG00000229754 tier1 - - 54 0 0.00 45 15 25.00 CYP27B1 0 genome.wustl.edu 37 12 58160778 58160778 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 58160778 58160778 C T SNP CYP27B1 ENST00000228606 human ensembl 74_37 -1 known missense c.47 p.R16H 0.000 NULL 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 CYP27B1 HGNC ENSG00000111012 82 0 0.00 74 4 5.13 DCAF4L2 0 genome.wustl.edu 37 8 88885764 88885764 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 88885764 88885764 A G SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.436 p.F146L 0.811 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 tier1 - - 33 0 0.00 41 8 16.33 DCDC1 0 genome.wustl.edu 37 11 30926625 30926625 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 30926625 30926625 T G SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.1428 p.Q476H 0.000 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 75 0 0.00 21 30 58.82 DCP1B 0 genome.wustl.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 2062350 2062350 C G SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.756 p.Q252H 0.000 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 40 0 0.00 33 2 5.71 DDX11 0 genome.wustl.edu 37 12 31242027 31242027 + Missense_Mutation SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 31242027 31242027 A T SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.734 p.E245V 1.000 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 tier1 - - 203 0 0.00 121 38 23.90 DDX17 0 genome.wustl.edu 37 22 38894489 38894489 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 38894489 38894489 C A SNP DDX17 ENST00000396821 human ensembl 74_37 -1 known missense c.628 p.D210Y 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 tier1 - - 61 0 0.00 37 4 9.76 DDX51 0 genome.wustl.edu 37 12 132624261 132624261 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 132624261 132624261 C T SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known silent c.1893 p.R631 0.985 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 tier1 - - 44 0 0.00 17 3 15.00 DEC1 0 genome.wustl.edu 37 9 118163485 118163485 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 118163485 118163485 C T SNP DEC1 ENST00000374016 human ensembl 74_37 +1 known missense c.101 p.A34V 0.000 NULL NULL - no_errors DEC1 HGNC ENSG00000173077 tier1 - - 45 0 0.00 43 4 8.51 DERL2 0 genome.wustl.edu 37 17 5389414 5389414 + Missense_Mutation SNP G G C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 5389414 5389414 G C SNP DERL2 ENST00000158771 human ensembl 74_37 -1 known missense c.68 p.A23G 1.000 pfam_DER1 pfam_DER1 - no_errors DERL2 HGNC ENSG00000072849 tier1 - - 27 0 0.00 25 6 19.35 DGCR5 0 genome.wustl.edu 37 22 18979584 18979584 + RNA SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 18979584 18979584 G T SNP DGCR5 ENST00000438934 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors DGCR5 HGNC ENSG00000237517 tier1 - - 29 0 0.00 11 3 21.43 DIO3OS 0 genome.wustl.edu 37 14 102026512 102026512 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 102026512 102026512 G A SNP DIO3OS ENST00000554735 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DIO3OS HGNC ENSG00000258498 tier1 - - 76 0 0.00 40 11 21.57 DIP2C 0 genome.wustl.edu 37 10 390977 390979 + In_Frame_Del DEL GCC GCC - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 390977 390979 GCC - DEL DIP2C ENST00000280886 human ensembl 74_37 -1 known in_frame_del c.3305_3303 p.A1102in_frame_del 0.979:0.971:0.194 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 tier1 52 0 0.00 28 3 9.68 DLC1 0 genome.wustl.edu 37 8 12957567 12957567 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 12957567 12957567 G A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.2279 p.T760M 0.984 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 rs144923726 - 35 0 0.00 42 10 19.23 DLX4 0 genome.wustl.edu 37 17 48051224 48051224 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 48051224 48051224 C T SNP DLX4 ENST00000240306 human ensembl 74_37 +1 known missense c.640 p.P214S 0.931 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors DLX4 HGNC ENSG00000108813 tier1 - - 58 0 0.00 50 4 7.41 DMAP1 0 genome.wustl.edu 37 1 44680454 44680454 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 44680454 44680454 C T SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.277 p.R93W 0.999 NULL pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 59 0 0.00 43 3 6.52 DMBT1 0 genome.wustl.edu 37 10 124358439 124358439 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 124358439 124358439 T C SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.3106 p.C1036R 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 224 0 0.00 112 71 38.80 DMC1 0 genome.wustl.edu 37 22 38934571 38934571 + Missense_Mutation SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 38934571 38934571 A T SNP DMC1 ENST00000216024 human ensembl 74_37 -1 known missense c.633 p.H211Q 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 39 0 0.00 22 2 8.33 DNAH14 0 genome.wustl.edu 37 1 225328714 225328714 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 225328714 225328714 A G SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known missense c.4448 p.E1483G 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 tier1 - - 44 0 0.00 32 5 13.51 DNAJC8 0 genome.wustl.edu 37 1 28536712 28536713 + RNA INS - - A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 28536712 28536713 - A INS DNAJC8 ENST00000482674 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DNAJC8 HGNC ENSG00000126698 tier1 18 0 0.00 17 2 10.53 DNTTIP2 0 genome.wustl.edu 37 1 94343366 94343366 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 94343366 94343366 T C SNP DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known missense c.125 p.D42G 0.000 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 tier1 - - 44 0 0.00 33 4 10.81 DSG1 0 genome.wustl.edu 37 18 28934711 28934711 + Missense_Mutation SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 18 28934711 28934711 T A SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.2552 p.V851E 0.751 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 tier1 - - 37 0 0.00 35 4 10.26 DSP 0 genome.wustl.edu 37 6 7585192 7585192 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 7585192 7585192 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.7697 p.G2566D 0.998 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 tier1 - - 58 0 0.00 34 8 19.05 DUS2 0 genome.wustl.edu 37 16 68104087 68104087 + Missense_Mutation SNP C C G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 68104087 68104087 C G SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known missense c.605 p.A202G 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 tier1 - - 80 0 0.00 54 10 15.62 DVL3 0 genome.wustl.edu 37 3 183887840 183887840 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 183887840 183887840 C T SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.1545 p.A515 0.996 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 48 0 0.00 29 2 6.45 DYNC1LI2 0 genome.wustl.edu 37 16 66761667 66761667 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 66761667 66761667 C A SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known missense c.1185 p.Q395H 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 tier1 - - 97 0 0.00 60 4 6.25 DYNC2H1 0 genome.wustl.edu 37 11 103092764 103092764 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 103092764 103092764 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.9113 p.L3038R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 116 0 0.00 49 38 43.18 ECE2 0 genome.wustl.edu 37 3 184005669 184005669 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 184005669 184005669 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known silent c.1662 p.D554 0.972 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 52 0 0.00 31 15 32.61 ECHDC1 0 genome.wustl.edu 37 6 127652116 127652116 + Missense_Mutation SNP G G C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 127652116 127652116 G C SNP ECHDC1 ENST00000531967 human ensembl 74_37 -1 known missense c.76 p.Q26E 0.042 NULL pfam_Crotonase_core_superfam - no_errors ECHDC1 HGNC ENSG00000093144 tier1 - - 41 0 0.00 55 8 12.70 EHD3 0 genome.wustl.edu 37 2 31457626 31457626 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 31457626 31457626 T C SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known missense c.139 p.S47P 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 tier1 - - 110 0 0.00 57 18 24.00 EHD4 0 genome.wustl.edu 37 15 42192879 42192879 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 42192879 42192879 G A SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known silent c.1590 p.P530 0.886 smart_EPS15_homology,pfscan_EPS15_homology pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 tier1 - - 59 0 0.00 24 29 54.72 ENSG00000212025 0 genome.wustl.edu 37 2 34628756 34628756 + RNA SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 34628756 34628756 A C SNP ENSG00000212025 ENST00000390736 human ensembl 74_37 -1 novel rna NULL NULL 0.110 - - - no_errors AC011748.1 Clone_based_ensembl_gene ENSG00000212025 tier1 - - 36 0 0.00 24 15 38.46 ENSG00000212045 0 genome.wustl.edu 37 4 29751918 29751918 + RNA SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 29751918 29751918 T G SNP ENSG00000212045 ENST00000390756 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors AC109351.1 Clone_based_ensembl_gene ENSG00000212045 tier1 - - 59 0 0.00 35 13 27.08 ENSG00000221101 0 genome.wustl.edu 37 6 87183251 87183251 + RNA SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 87183251 87183251 A C SNP ENSG00000221101 ENST00000408174 human ensembl 74_37 -1 novel rna NULL NULL 0.065 - - - no_errors AL391417.1 Clone_based_ensembl_gene ENSG00000221101 tier1 - - 123 0 0.00 140 40 22.22 ENSG00000221664 0 genome.wustl.edu 37 1 77857164 77857165 + RNA INS - - TA TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 77857164 77857165 - TA INS ENSG00000221664 ENST00000408737 human ensembl 74_37 -1 novel rna NULL NULL 0.989:0.989 - - - no_errors AC095030.1 Clone_based_ensembl_gene ENSG00000221664 tier1 42 0 0.00 26 2 7.14 ENSG00000228980 0 genome.wustl.edu 37 3 109136844 109136844 + RNA SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 109136844 109136844 T G SNP ENSG00000228980 ENST00000489670 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000228980 tier1 - - 33 0 0.00 5 5 50.00 ENSG00000230490 0 genome.wustl.edu 37 13 34013856 34013856 + RNA SNP G G C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 34013856 34013856 G C SNP ENSG00000230490 ENST00000454681 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-141M1.3 Clone_based_vega_gene ENSG00000230490 tier1 - - 98 0 0.00 105 23 17.97 ENSG00000239922 0 genome.wustl.edu 37 3 147657892 147657892 + RNA SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 147657892 147657892 A G SNP ENSG00000239922 ENST00000467198 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-71N10.1 Clone_based_vega_gene ENSG00000239922 tier1 - - 58 0 0.00 36 12 25.00 ENSG00000244306 0 genome.wustl.edu 37 14 19856906 19856906 + RNA SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 19856906 19856906 A G SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 84 0 0.00 62 10 13.89 ENSG00000251812 0 genome.wustl.edu 37 17 4089717 4089717 + RNA DEL A A - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 4089717 4089717 A - DEL ENSG00000251812 ENST00000516003 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors Y_RNA RFAM ENSG00000251812 tier1 20 0 0.00 17 3 15.00 ENSG00000254420 0 genome.wustl.edu 37 11 78154810 78154811 + RNA INS - - A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 78154810 78154811 - A INS ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.247:0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 40 0 0.00 27 3 10.00 ENSG00000265376 0 genome.wustl.edu 37 3 31203216 31203216 + RNA SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 31203216 31203216 C T SNP ENSG00000265376 ENST00000580653 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-466 miRBase ENSG00000265376 tier1 - - 31 0 0.00 27 5 15.62 ENSG00000268400 0 genome.wustl.edu 37 19 7706941 7706941 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 7706941 7706941 G A SNP ENSG00000268400 ENST00000598664 human ensembl 74_37 +1 known missense c.73 p.V25I 0.921 NULL NULL - no_errors CTD-3214H19.4 Clone_based_vega_gene ENSG00000268400 tier1 - - 68 0 0.00 31 30 49.18 EPPK1 0 genome.wustl.edu 37 8 144945735 144945735 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 144945735 144945735 G T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.1687 p.L563M 0.147 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 48 0 0.00 47 3 6.00 ERC2 0 genome.wustl.edu 37 3 55543118 55543118 + RNA SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 55543118 55543118 T G SNP ERC2 ENST00000486496 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 47 0 0.00 15 7 31.82 ERCC6 0 genome.wustl.edu 37 10 50681583 50681583 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 50681583 50681583 G T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known silent c.2649 p.L883 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 tier1 - - 64 0 0.00 34 4 10.53 EXOC1 0 genome.wustl.edu 37 4 56756523 56756523 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 56756523 56756523 G T SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.1510 p.D504Y 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 tier1 - - 72 0 0.00 56 4 6.67 FAH 0 genome.wustl.edu 37 15 80464492 80464493 + Frame_Shift_Ins INS - - T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 80464492 80464493 - T INS FAH ENST00000261755 human ensembl 74_37 +1 known frame_shift_ins c.608_609 p.V206fs 1.000:1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC ENSG00000103876 tier1 59 0 0.00 33 14 29.79 FAM187B 0 genome.wustl.edu 37 19 35719356 35719356 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 35719356 35719356 G T SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known silent c.228 p.P76 0.000 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 63 0 0.00 34 2 5.56 FAM8A1 0 genome.wustl.edu 37 6 17606169 17606169 + Missense_Mutation SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 17606169 17606169 T A SNP FAM8A1 ENST00000259963 human ensembl 74_37 +1 known missense c.1022 p.V341E 1.000 pfam_RDD pfam_RDD - no_errors FAM8A1 HGNC ENSG00000137414 66 0 0.00 66 4 5.71 FANCC 0 genome.wustl.edu 37 9 98011548 98011548 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 98011548 98011548 G T SNP FANCC ENST00000289081 human ensembl 74_37 -1 known missense c.26 p.S9Y 0.062 pfam_Fanconi,pirsf_Fanconi pfam_Fanconi,pirsf_Fanconi,prints_Fanconi - no_errors FANCC HGNC ENSG00000158169 tier1 - - 25 0 0.00 11 3 21.43 FANCD2 0 genome.wustl.edu 37 3 10127509 10127509 + Missense_Mutation SNP C C G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 10127509 10127509 C G SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.3238 p.Q1080E 0.002 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 tier1 - - 62 0 0.00 25 18 41.86 FANCM 0 genome.wustl.edu 37 14 45665547 45665547 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 45665547 45665547 G T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.5513 p.R1838I 0.957 superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 90 0 0.00 60 4 6.25 FAT3 0 genome.wustl.edu 37 11 92531706 92531706 + Missense_Mutation SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 92531706 92531706 A T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5527 p.T1843S 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 47 0 0.00 36 14 28.00 FAT3 0 genome.wustl.edu 37 11 92600351 92600351 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 92600351 92600351 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12103 p.S4035G 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 27 0 0.00 15 4 21.05 FAT4 0 genome.wustl.edu 37 4 126411358 126411358 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 126411358 126411358 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13381 p.T4461A 0.737 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 54 0 0.00 17 12 41.38 FBXO7 0 genome.wustl.edu 37 22 32889259 32889259 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 32889259 32889259 G A SNP FBXO7 ENST00000266087 human ensembl 74_37 +1 known missense c.1135 p.D379N 1.000 superfamily_F-box_dom pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO7 HGNC ENSG00000100225 tier1 - - 101 0 0.00 49 25 33.78 FGGY 0 genome.wustl.edu 37 1 59787277 59787277 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 59787277 59787277 C T SNP FGGY ENST00000303721 human ensembl 74_37 +1 known missense c.56 p.T19I 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 tier1 - - 65 0 0.00 51 4 7.27 FKBP1C 0 genome.wustl.edu 37 6 63921604 63921604 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 63921604 63921604 A C SNP FKBP1C ENST00000370659 human ensembl 74_37 +1 known missense c.143 p.K48T 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP1C HGNC ENSG00000198225 tier1 - - 78 0 0.00 50 15 23.08 FLRT1 0 genome.wustl.edu 37 11 63885044 63885044 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 63885044 63885044 C T SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known silent c.1305 p.G435 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 tier1 - - 25 0 0.00 3 18 85.71 FMN2 0 genome.wustl.edu 37 1 240601495 240601495 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 240601495 240601495 T G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.5045 p.L1682R 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 50 0 0.00 35 29 45.31 FMO4 0 genome.wustl.edu 37 1 171303708 171303708 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 171303708 171303708 G T SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.986 p.G329V 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 79 0 0.00 72 4 5.26 FNIP1 0 genome.wustl.edu 37 5 131034664 131034664 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 131034664 131034664 G A SNP FNIP1 ENST00000510461 human ensembl 74_37 -1 known missense c.1148 p.A383V 1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 55 0 0.00 31 2 6.06 FOLH1 0 genome.wustl.edu 37 11 49168407 49168407 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 49168407 49168407 T G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.2154 p.K718N 0.317 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 112 0 0.00 53 16 23.19 GABRA6 0 genome.wustl.edu 37 5 161117260 161117260 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 161117260 161117260 T G SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.727 p.F243V 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 tier1 - - 88 0 0.00 33 18 35.29 GABRG1 0 genome.wustl.edu 37 4 46043126 46043126 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 46043126 46043126 G T SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known missense c.1277 p.S426Y 0.994 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 tier1 - - 51 0 0.00 25 9 26.47 GALNT6 0 genome.wustl.edu 37 12 51748202 51748202 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 51748202 51748202 G A SNP GALNT6 ENST00000356317 human ensembl 74_37 -1 known silent c.1830 p.C610 0.995 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 tier1 - - 75 0 0.00 69 4 5.48 GAS2L2 0 genome.wustl.edu 37 17 34074129 34074129 + Nonsense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 34074129 34074129 G A SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known nonsense c.991 p.R331* 0.998 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 tier1 rs139340113 - 105 0 0.00 63 28 30.77 GATAD2A 0 genome.wustl.edu 37 19 19613278 19613278 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 19613278 19613278 G A SNP GATAD2A ENST00000358713 human ensembl 74_37 +1 known missense c.1714 p.V572M 0.000 NULL pfam_Znf_GATA,pfscan_Znf_GATA - no_errors GATAD2A HGNC ENSG00000167491 tier1 - - 101 0 0.00 40 31 43.06 GCN1L1 0 genome.wustl.edu 37 12 120589038 120589038 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 120589038 120589038 C A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.4220 p.G1407V 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 30 0 0.00 8 13 61.90 GEMIN4 0 genome.wustl.edu 37 17 649797 649797 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 649797 649797 T G SNP GEMIN4 ENST00000319004 human ensembl 74_37 -1 known missense c.1486 p.N496H 1.000 NULL NULL - no_errors GEMIN4 HGNC ENSG00000179409 tier1 - - 55 0 0.00 31 8 20.51 GLI3 0 genome.wustl.edu 37 7 42004239 42004239 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 42004239 42004239 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.4432 p.E1478K 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 42 0 0.00 25 17 40.48 GLI3 0 genome.wustl.edu 37 7 42079837 42079837 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 42079837 42079837 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.828 p.S276R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 40 0 0.00 38 2 5.00 GLIPR1 0 genome.wustl.edu 37 12 75875698 75875698 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 75875698 75875698 C A SNP GLIPR1 ENST00000266659 human ensembl 74_37 +1 known missense c.259 p.H87N 0.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen - no_errors GLIPR1 HGNC ENSG00000139278 73 0 0.00 42 3 6.67 GMNN 0 genome.wustl.edu 37 6 24780905 24780905 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 24780905 24780905 A G SNP GMNN ENST00000230056 human ensembl 74_37 +1 known silent c.66 p.P22 0.999 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC ENSG00000112312 tier1 - - 50 0 0.00 49 5 9.26 GNAL 0 genome.wustl.edu 37 18 11876682 11876682 + Frame_Shift_Del DEL T T - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 18 11876682 11876682 T - DEL GNAL ENST00000334049 human ensembl 74_37 +1 known frame_shift_del c.1225 p.L410fs 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S - no_errors GNAL HGNC ENSG00000141404 tier1 108 0 0.00 33 2 5.71 GOLGA6L2 0 genome.wustl.edu 37 15 23686609 23686609 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 23686609 23686609 C T SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known missense c.1013 p.R338Q 0.000 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 - - 133 0 0.00 105 33 23.91 GON4L 0 genome.wustl.edu 37 1 155734857 155734857 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 155734857 155734857 G T SNP GON4L ENST00000368331 human ensembl 74_37 -1 known silent c.4407 p.T1469 1.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 82 0 0.00 70 4 5.41 GPATCH2L 0 genome.wustl.edu 37 14 76620929 76620929 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 76620929 76620929 G T SNP GPATCH2L ENST00000261530 human ensembl 74_37 +1 known missense c.223 p.D75Y 1.000 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 33 0 0.00 29 2 6.45 GPLD1 0 genome.wustl.edu 37 6 24433598 24433598 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 24433598 24433598 G T SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.2378 p.S793Y 1.000 prints_Gprt_PLipase_D pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 tier1 - - 116 0 0.00 52 65 55.56 GPR26 0 genome.wustl.edu 37 10 125426536 125426536 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 125426536 125426536 C A SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.613 p.R205S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 40 0 0.00 17 2 10.53 GPR98 0 genome.wustl.edu 37 5 90041004 90041004 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 90041004 90041004 A C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.10691 p.N3564T 0.642 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 53 0 0.00 24 12 33.33 GRAMD1A 0 genome.wustl.edu 37 19 35514444 35514444 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 35514444 35514444 T C SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known missense c.2075 p.L692P 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 tier1 - - 33 0 0.00 32 4 11.11 GRIK2 0 genome.wustl.edu 37 6 102134068 102134068 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 102134068 102134068 T G SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.791 p.L264R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 tier1 - - 50 0 0.00 43 7 14.00 GRM1 0 genome.wustl.edu 37 6 146720714 146720714 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 146720714 146720714 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2539 p.R847C 1.000 pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 54 0 0.00 58 17 22.67 GRM4 0 genome.wustl.edu 37 6 34003813 34003813 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 34003813 34003813 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.2074 p.R692C 0.978 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 - - 39 0 0.00 27 16 37.21 GRM5-AS1 0 genome.wustl.edu 37 11 88240956 88240956 + RNA DEL T T - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 88240956 88240956 T - DEL GRM5-AS1 ENST00000526448 human ensembl 74_37 +1 known rna NULL NULL 0.326 - - - no_errors GRM5-AS1 HGNC ENSG00000255082 tier1 46 0 0.00 31 2 6.06 GUCY1B2 0 genome.wustl.edu 37 13 51594609 51594609 + RNA SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 51594609 51594609 T G SNP GUCY1B2 ENST00000389600 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GUCY1B2 HGNC ENSG00000123201 tier1 - - 78 0 0.00 67 15 18.29 GYG2 0 genome.wustl.edu 37 X 2773102 2773102 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 2773102 2773102 G A SNP GYG2 ENST00000381163 human ensembl 74_37 +1 known silent c.486 p.P162 0.111 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 tier1 - - 45 0 0.00 8 14 63.64 HADHB 0 genome.wustl.edu 37 2 26502881 26502881 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 26502881 26502881 A G SNP HADHB ENST00000317799 human ensembl 74_37 +1 known silent c.831 p.K277 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase - no_errors HADHB HGNC ENSG00000138029 tier1 - - 40 0 0.00 26 11 29.73 HDAC10 0 genome.wustl.edu 37 22 50685323 50685323 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 50685323 50685323 G T SNP HDAC10 ENST00000216271 human ensembl 74_37 -1 known missense c.1495 p.L499M 0.017 NULL pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC10 HGNC ENSG00000100429 tier1 - - 47 0 0.00 21 3 12.50 HGFAC 0 genome.wustl.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 3443798 3443800 CTG - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known in_frame_del c.70_72 p.L27in_frame_del 0.997:0.997:0.998 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 tier1 58 0 0.00 26 2 7.14 HIST1H1B 0 genome.wustl.edu 37 6 27834947 27834947 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 27834947 27834947 G A SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.361 p.P121S 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 tier1 - - 67 0 0.00 60 15 20.00 HMBS 0 genome.wustl.edu 37 11 118962697 118962697 + RNA DEL A A - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 118962697 118962697 A - DEL HMBS ENST00000534956 human ensembl 74_37 +1 known rna NULL NULL 0.013 - - - no_errors HMBS HGNC ENSG00000256269 tier1 22 0 0.00 6 5 45.45 HNF1A 0 genome.wustl.edu 37 12 121435510 121435510 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 121435510 121435510 G T SNP HNF1A ENST00000400024 human ensembl 74_37 +1 known missense c.1543 p.G515C 0.000 NULL pfam_HNF-1_N,pfam_HNF1b_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 tier1 - - 78 0 0.00 59 4 6.35 HNF4A 0 genome.wustl.edu 37 20 43048461 43048461 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 43048461 43048461 G A SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known silent c.837 p.L279 0.962 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 tier1 - - 43 0 0.00 58 4 6.45 HNRNPR 0 genome.wustl.edu 37 1 23636407 23636407 + RNA SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 23636407 23636407 T C SNP HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC ENSG00000125944 tier1 - - 66 0 0.00 51 4 7.27 HSP90AA4P 0 genome.wustl.edu 37 4 190395806 190395806 + RNA SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 190395806 190395806 A C SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 tier1 - - 67 0 0.00 18 16 47.06 ICAM1 0 genome.wustl.edu 37 19 10394884 10394884 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 10394884 10394884 G A SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known silent c.813 p.S271 0.009 NULL pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 tier1 rs200759542 - 40 0 0.00 9 10 52.63 IGF2BP3 0 genome.wustl.edu 37 7 23391117 23391117 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 23391117 23391117 G T SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known missense c.490 p.P164T 0.038 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 47 0 0.00 31 2 6.06 IGFALS 0 genome.wustl.edu 37 16 1841564 1841564 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 1841564 1841564 C T SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known silent c.969 p.T323 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 52 0 0.00 35 2 5.41 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862898 10862898 + Missense_Mutation SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 21 10862898 10862898 A T SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.194 p.E65V 1.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier1 - - 136 0 0.00 101 29 22.31 ILDR2 0 genome.wustl.edu 37 1 166908781 166908781 + Missense_Mutation SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 166908781 166908781 A T SNP ILDR2 ENST00000271417 human ensembl 74_37 -1 known missense c.526 p.L176M 1.000 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 tier1 - - 62 0 0.00 36 4 10.00 INVS 0 genome.wustl.edu 37 9 103035315 103035315 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 103035315 103035315 C A SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.1741 p.L581I 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 tier1 - - 75 0 0.00 37 10 21.28 IP6K3 0 genome.wustl.edu 37 6 33694507 33694507 + Splice_Site SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 33694507 33694507 C T SNP IP6K3 ENST00000293756 human ensembl 74_37 -1 known splice_site c.589+1 e3+1 1.000 - - - no_errors IP6K3 HGNC ENSG00000161896 tier1 - - 91 0 0.00 104 7 6.31 IPP 0 genome.wustl.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 46184897 46184898 AC - DEL IPP ENST00000396478 human ensembl 74_37 -1 known frame_shift_del c.1164_1163 p.C388fs 1.000:1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 tier1 41 0 0.00 25 2 7.41 IQGAP1 0 genome.wustl.edu 37 15 91019911 91019911 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 91019911 91019911 G A SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.2801 p.S934N 1.000 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 104 0 0.00 78 5 6.02 IREB2 0 genome.wustl.edu 37 15 78783102 78783102 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 78783102 78783102 G T SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.2323 p.G775C 1.000 pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 tier1 - - 48 0 0.00 44 4 8.33 IRS2 0 genome.wustl.edu 37 13 110436549 110436549 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 110436549 110436549 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.1852 p.A618T 0.886 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 tier1 - - 21 0 0.00 12 3 20.00 IRX1 0 genome.wustl.edu 37 5 3600784 3600784 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 3600784 3600784 G T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.1374 p.P458 0.956 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 80 0 0.00 40 37 48.05 ITGA6 0 genome.wustl.edu 37 2 173352291 173352291 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 173352291 173352291 G A SNP ITGA6 ENST00000264106 human ensembl 74_37 +1 known missense c.2294 p.C765Y 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 tier1 rs142894108 - 63 0 0.00 41 4 8.89 ITGAD 0 genome.wustl.edu 37 16 31408920 31408920 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 31408920 31408920 G A SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.245 p.R82H 0.277 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 102 0 0.00 72 26 26.53 ITK 0 genome.wustl.edu 37 5 156608060 156608060 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 156608060 156608060 G T SNP ITK ENST00000422843 human ensembl 74_37 +1 known silent c.72 p.S24 0.020 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 50 0 0.00 43 4 8.51 KCTD16 0 genome.wustl.edu 37 5 143853531 143853531 + Frame_Shift_Del DEL A A - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 143853531 143853531 A - DEL KCTD16 ENST00000507359 human ensembl 74_37 +1 known frame_shift_del c.1141 p.A384fs 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 55 0 0.00 50 5 9.09 KDELC2 0 genome.wustl.edu 37 11 108352842 108352842 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 108352842 108352842 G T SNP KDELC2 ENST00000323468 human ensembl 74_37 -1 known silent c.792 p.G264 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC2 HGNC ENSG00000178202 tier1 - - 62 0 0.00 56 4 6.67 KDM2A 0 genome.wustl.edu 37 11 67023682 67023685 + RNA DEL GGAG GGAG - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 GGAG GGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 67023682 67023685 GGAG - DEL KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.034:0.048:0.412 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 16 0 0.00 16 3 15.79 KDM4A 0 genome.wustl.edu 37 1 44137265 44137265 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 44137265 44137265 G A SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.1453 p.A485T 0.824 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 tier1 - - 62 0 0.00 15 16 51.61 KHDRBS3 0 genome.wustl.edu 37 8 136619224 136619224 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 136619224 136619224 T C SNP KHDRBS3 ENST00000355849 human ensembl 74_37 +1 known silent c.834 p.A278 0.994 NULL smart_KH_dom - no_errors KHDRBS3 HGNC ENSG00000131773 tier1 - - 74 0 0.00 34 27 44.26 KIAA0754 0 genome.wustl.edu 37 1 39878348 39878348 + Nonsense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 39878348 39878348 C A SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known nonsense c.2003 p.S668* 0.001 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 33 0 0.00 11 2 15.38 KIAA0825 0 genome.wustl.edu 37 5 93800647 93800647 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 93800647 93800647 C T SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known missense c.1990 p.E664K 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 tier1 - - 113 0 0.00 45 26 36.62 KIAA1324 0 genome.wustl.edu 37 1 109730251 109730251 + RNA SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 109730251 109730251 C T SNP KIAA1324 ENST00000369938 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KIAA1324 HGNC ENSG00000116299 tier1 - - 51 0 0.00 45 4 8.16 KIAA1432 0 genome.wustl.edu 37 9 5742916 5742916 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 5742916 5742916 G A SNP KIAA1432 ENST00000418622 human ensembl 74_37 +1 known missense c.712 p.D238N 1.000 superfamily_WD40_repeat_dom pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 tier1 - - 120 0 0.00 67 4 5.63 KIAA2018 0 genome.wustl.edu 37 3 113377481 113377482 + Frame_Shift_Ins INS - - T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 113377481 113377482 - T INS KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_ins c.3048_3047 p.N1016fs 0.174:0.827 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 23 0 0.00 23 4 14.81 KIF21B 0 genome.wustl.edu 37 1 200946364 200946364 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 200946364 200946364 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.4301 p.A1434V 0.986 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 44 0 0.00 30 2 6.25 KIF2B 0 genome.wustl.edu 37 17 51900497 51900497 + Nonsense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 51900497 51900497 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known nonsense c.103 p.Q35* 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 69 0 0.00 23 37 61.67 KIF2B 0 genome.wustl.edu 37 17 51900805 51900805 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 51900805 51900805 C A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.411 p.S137R 0.977 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 30 0 0.00 18 5 21.74 KIF2B 0 genome.wustl.edu 37 17 51901908 51901908 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 51901908 51901908 A G SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1514 p.D505G 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 40 0 0.00 15 9 37.50 KLHL31 0 genome.wustl.edu 37 6 53516583 53516583 + Nonsense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 53516583 53516583 C T SNP KLHL31 ENST00000370905 human ensembl 74_37 -1 known nonsense c.1718 p.W573* 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 tier1 - - 56 0 0.00 18 37 67.27 KRTAP9-4 0 genome.wustl.edu 37 17 39406094 39406094 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 39406094 39406094 C A SNP KRTAP9-4 ENST00000334109 human ensembl 74_37 +1 known missense c.122 p.S41Y 0.009 NULL NULL - no_errors KRTAP9-4 HGNC ENSG00000241595 tier1 - - 118 0 0.00 1291 75 5.49 LAMA1 0 genome.wustl.edu 37 18 6995391 6995391 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 18 6995391 6995391 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.4861 p.G1621S 0.009 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 85 0 0.00 14 10 41.67 LAMA1 0 genome.wustl.edu 37 18 7010314 7010314 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 18 7010314 7010314 T G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.3758 p.N1253T 0.995 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 69 0 0.00 11 11 50.00 LAYN 0 genome.wustl.edu 37 11 111414699 111414699 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 111414699 111414699 A G SNP LAYN ENST00000375615 human ensembl 74_37 +1 known missense c.161 p.Y54C 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors LAYN HGNC ENSG00000204381 tier1 - - 46 0 0.00 46 12 20.69 LCA5L 0 genome.wustl.edu 37 21 40800302 40800302 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 21 40800302 40800302 G A SNP LCA5L ENST00000288350 human ensembl 74_37 -1 known missense c.118 p.R40W 0.000 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 tier1 - - 38 0 0.00 18 8 30.77 LCOR 0 genome.wustl.edu 37 10 98715673 98715673 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 98715673 98715673 C A SNP LCOR ENST00000356016 human ensembl 74_37 +1 known missense c.1296 p.N432K 0.964 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 43 0 0.00 26 2 7.14 LCP2 0 genome.wustl.edu 37 5 169695469 169695470 + Frame_Shift_Ins INS - - C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 169695469 169695470 0 C INS LCP2 ENST00000046794 human ensembl 74_37 -1 known frame_shift_ins c.541_540 p.K180fs 0.099:0.088 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 57 0 0.00 52 6 10.34 LCT 0 genome.wustl.edu 37 2 136567304 136567304 + Silent SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 136567304 136567304 A C SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.2613 p.T871 0.000 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 63 0 0.00 40 7 14.89 LEF1 0 genome.wustl.edu 37 4 108969352 108969353 + RNA INS - - A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 108969352 108969353 - A INS LEF1 ENST00000503879 human ensembl 74_37 -1 known rna NULL NULL 0.813:0.534 - - - no_errors LEF1 HGNC ENSG00000138795 tier1 47 0 0.00 23 4 14.81 LMF2 0 genome.wustl.edu 37 22 50942069 50942069 + Nonsense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 50942069 50942069 C T SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known nonsense c.1875 p.W625* 0.425 NULL pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 tier1 - - 83 0 0.00 55 22 28.57 LMO1 0 genome.wustl.edu 37 11 8248574 8248574 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 8248574 8248574 G A SNP LMO1 ENST00000335790 human ensembl 74_37 -1 known missense c.313 p.R105W 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC ENSG00000166407 tier1 - - 62 0 0.00 28 10 26.32 LMO7 0 genome.wustl.edu 37 13 76195835 76195835 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 76195835 76195835 G T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.6 p.K2N 0.007 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 40 0 0.00 30 2 6.25 LMX1B 0 genome.wustl.edu 37 9 129453223 129453223 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 129453223 129453223 G T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known silent c.435 p.V145 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 tier1 - - 88 0 0.00 75 4 5.06 LOC100631378 0 genome.wustl.edu 37 19 38315139 38315139 + RNA SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 38315139 38315139 A C SNP LOC100631378 ENST00000592640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC016582.2 Clone_based_vega_gene ENSG00000225868 tier1 - - 89 0 0.00 45 22 32.84 LOC100996735 0 genome.wustl.edu 37 1 148951504 148951504 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 148951504 148951504 G A SNP LOC100996735 ENST00000452399 human ensembl 74_37 +1 known rna NULL NULL 0.373 - - - no_errors RP11-14N7.2 Clone_based_vega_gene ENSG00000232527 21 0 0.00 22 3 12.00 LOC440518 0 genome.wustl.edu 37 19 22786284 22786284 + RNA SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 22786284 22786284 G T SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 16 0 0.00 11 4 26.67 LOC441666 0 genome.wustl.edu 37 10 42832819 42832819 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 42832819 42832819 G A SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 103 0 0.00 30 61 67.03 LOXL2 0 genome.wustl.edu 37 8 23155563 23155563 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 23155563 23155563 G T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.2318 p.P773Q 0.001 NULL pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 37 0 0.00 41 3 6.82 LRP1 0 genome.wustl.edu 37 12 57587720 57587720 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 57587720 57587720 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.7843 p.G2615R 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,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 129 0 0.00 62 25 28.74 LRP1B 0 genome.wustl.edu 37 2 141092037 141092037 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 141092037 141092037 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12208 p.L4070V 0.732 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,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 - - 88 0 0.00 53 12 18.46 LRP1B 0 genome.wustl.edu 37 2 141232707 141232707 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 141232707 141232707 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9625 p.V3209I 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_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 - - 38 0 0.00 16 4 20.00 LRP1B 0 genome.wustl.edu 37 2 141250214 141250214 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 141250214 141250214 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9083 p.I3028S 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 105 0 0.00 73 18 19.78 LRRK2 0 genome.wustl.edu 37 12 40645048 40645048 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 40645048 40645048 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.973 p.L325V 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 54 0 0.00 28 5 15.15 LRTOMT 0 genome.wustl.edu 37 11 71817232 71817232 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 71817232 71817232 T G SNP LRTOMT ENST00000307198 human ensembl 74_37 +1 known missense c.334 p.L112V 1.000 NULL pfam_O-MeTrfase_3 - no_errors LRTOMT HGNC ENSG00000184154 tier1 - - 62 0 0.00 18 11 37.93 LZTFL1 0 genome.wustl.edu 37 3 45956999 45956999 + Frame_Shift_Del DEL G G - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 45956999 45956999 G - DEL LZTFL1 ENST00000418700 human ensembl 74_37 -1 known frame_shift_del c.112 p.R38fs 0.002 NULL NULL - no_errors LZTFL1 HGNC ENSG00000163818 tier1 44 0 0.00 28 2 6.67 MAGEC3 0 genome.wustl.edu 37 X 140985396 140985396 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 140985396 140985396 T G SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known missense c.958 p.F320V 0.006 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 44 0 0.00 24 20 45.45 MAGEE1 0 genome.wustl.edu 37 X 75650295 75650295 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 75650295 75650295 A G SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1972 p.R658G 0.025 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 27 0 0.00 13 6 31.58 MAPK7 0 genome.wustl.edu 37 17 19283228 19283228 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 19283228 19283228 G T SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.366 p.R122S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK7 HGNC ENSG00000166484 tier1 - - 50 0 0.00 24 4 14.29 MEG3 0 genome.wustl.edu 37 14 101302337 101302337 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 101302337 101302337 G A SNP MEG3 ENST00000455531 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 67 0 0.00 28 10 26.32 MFGE8 0 genome.wustl.edu 37 15 89442676 89442676 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 89442676 89442676 C T SNP MFGE8 ENST00000268150 human ensembl 74_37 -1 known missense c.1114 p.V372I 0.172 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC ENSG00000140545 77 0 0.00 64 4 5.88 MGA 0 genome.wustl.edu 37 15 42042674 42042674 + Missense_Mutation SNP G G C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 42042674 42042674 G C SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.6869 p.G2290A 0.925 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 30 0 0.00 30 2 6.25 MICAL3 0 genome.wustl.edu 37 22 18310414 18310414 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 18310414 18310414 G A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known silent c.3189 p.S1063 0.961 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 244 0 0.00 83 34 28.81 MPPED2 0 genome.wustl.edu 37 11 30439101 30439101 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 30439101 30439101 C T SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known missense c.616 p.G206S 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 tier1 - - 51 0 0.00 26 12 31.58 MSN 0 genome.wustl.edu 37 X 64956699 64956699 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 64956699 64956699 G A SNP MSN ENST00000360270 human ensembl 74_37 +1 known silent c.1002 p.E334 1.000 pirsf_ERM pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 22 0 0.00 30 3 9.09 MSN 0 genome.wustl.edu 37 X 64956743 64956743 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 64956743 64956743 A G SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.1046 p.E349G 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 31 0 0.00 40 3 6.98 MT-ND5 0 genome.wustl.edu 37 MT 12344 12344 + Missense_Mutation SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b MT 12344 12344 T A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.8 p.M3K NULL NULL pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 35 0 0.00 4 2 33.33 MT-RNR1 0 genome.wustl.edu 37 MT 1546 1546 + RNA SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b MT 1546 1546 A G SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 42 0 0.00 3 2 40.00 MT-RNR1 0 genome.wustl.edu 37 MT 1553 1553 + RNA SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b MT 1553 1553 A T SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 44 0 0.00 3 2 40.00 MTHFD2L 0 genome.wustl.edu 37 4 75065639 75065639 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 75065639 75065639 G T SNP MTHFD2L ENST00000395759 human ensembl 74_37 +1 known missense c.580 p.V194F 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD2L HGNC ENSG00000163738 tier1 - - 87 0 0.00 37 4 9.76 MUC13 0 genome.wustl.edu 37 3 124632422 124632423 + Frame_Shift_Ins INS - - CTCT TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 124632422 124632423 - CTCT INS MUC13 ENST00000311075 human ensembl 74_37 -1 known frame_shift_ins c.1068_1067 p.S356fs 0.000:0.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors MUC13 HGNC ENSG00000173702 tier1 63 0 0.00 45 9 16.67 MUC16 0 genome.wustl.edu 37 19 9049753 9049753 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 9049753 9049753 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.31878 p.S10626 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 47 0 0.00 27 16 37.21 MUC16 0 genome.wustl.edu 37 19 9075786 9075786 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 9075786 9075786 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.11660 p.N3887T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 34 0 0.00 13 8 38.10 MUC16 0 genome.wustl.edu 37 19 9084596 9084596 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 9084596 9084596 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7219 p.L2407I 0.117 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 65 0 0.00 36 3 7.69 MUC4 0 genome.wustl.edu 37 3 195509608 195509608 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 195509608 195509608 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.8843 p.T2948I 0.005 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 169 0 0.00 191 76 28.46 MYBBP1A 0 genome.wustl.edu 37 17 4457381 4457382 + Frame_Shift_Ins INS - - TGAG TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 4457381 4457382 - TGAG INS MYBBP1A ENST00000381556 human ensembl 74_37 -1 known frame_shift_ins c.386_385 p.L129fs 0.888:0.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 tier1 40 0 0.00 21 2 8.70 MYH6 0 genome.wustl.edu 37 14 23863430 23863430 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 23863430 23863430 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.2532 p.S844 0.904 NULL 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 MYH6 HGNC ENSG00000197616 tier1 - - 46 0 0.00 38 11 22.45 MYH7 0 genome.wustl.edu 37 14 23890230 23890230 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 23890230 23890230 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known silent c.3273 p.N1091 0.023 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 rs200664031 - 51 0 0.00 12 15 55.56 MYL3 0 genome.wustl.edu 37 3 46904790 46904790 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 46904790 46904790 G A SNP MYL3 ENST00000292327 human ensembl 74_37 -1 known missense c.91 p.R31C 0.684 NULL pfscan_EF_hand_dom - no_errors MYL3 HGNC ENSG00000160808 tier1 - - 65 0 0.00 55 4 6.78 MYLIP 0 genome.wustl.edu 37 6 16146915 16146915 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 16146915 16146915 G A SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known missense c.1271 p.R424H 0.000 NULL pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 tier1 rs199758517 - 76 0 0.00 73 4 5.19 MYO15A 0 genome.wustl.edu 37 17 18082098 18082098 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 18082098 18082098 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.10507 p.R3503C 1.000 pfscan_FERM_domain 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 tier1 - - 42 0 0.00 20 10 33.33 MYO18B 0 genome.wustl.edu 37 22 26351222 26351222 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 26351222 26351222 G T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.6048 p.Q2016H 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 91 0 0.00 67 4 5.63 MYO3A 0 genome.wustl.edu 37 10 26455097 26455097 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 26455097 26455097 G T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3101 p.G1034V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 67 0 0.00 52 3 5.45 MYOM2 0 genome.wustl.edu 37 8 2046716 2046716 + Nonsense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 2046716 2046716 C A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known nonsense c.2343 p.Y781* 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 MYOM2 HGNC ENSG00000036448 tier1 - - 122 0 0.00 46 47 50.54 NAA11 0 genome.wustl.edu 37 4 80246474 80246474 + Silent SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 80246474 80246474 A C SNP NAA11 ENST00000286794 human ensembl 74_37 -1 known silent c.558 p.S186 0.000 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 tier1 - - 75 0 0.00 22 10 31.25 NBAS 0 genome.wustl.edu 37 2 15358907 15358907 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 15358907 15358907 G A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.6422 p.P2141L 1.000 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 - - 78 0 0.00 50 14 21.88 NDRG1 0 genome.wustl.edu 37 8 134251058 134251058 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 134251058 134251058 G A SNP NDRG1 ENST00000521414 human ensembl 74_37 -1 known rna NULL NULL 0.331 - - - no_errors NDRG1 HGNC ENSG00000104419 tier1 - - 24 0 0.00 15 4 20.00 NDST3 0 genome.wustl.edu 37 4 118975271 118975271 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 118975271 118975271 A G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.206 p.K69R 0.433 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 30 0 0.00 13 6 31.58 NEB 0 genome.wustl.edu 37 2 152362681 152362681 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 152362681 152362681 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.23648 p.S7883L 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 rs202191938 - 90 0 0.00 56 18 24.32 NEFH 0 genome.wustl.edu 37 22 29884949 29884949 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 29884949 29884949 C A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.1320 p.S440R 0.603 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 tier1 - - 49 0 0.00 30 21 41.18 NELL1 0 genome.wustl.edu 37 11 21592442 21592442 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 21592442 21592442 A G SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.2113 p.S705G 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C 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 tier1 - - 96 0 0.00 32 10 22.73 NETO1 0 genome.wustl.edu 37 18 70502512 70502512 + RNA SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 18 70502512 70502512 A C SNP NETO1 ENST00000580049 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 57 0 0.00 14 8 36.36 NLGN4Y 0 genome.wustl.edu 37 Y 16936229 16936229 + Missense_Mutation SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b Y 16936229 16936229 T A SNP NLGN4Y ENST00000382868 human ensembl 74_37 +1 known missense c.958 p.L320M 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 tier1 - - 84 0 0.00 23 29 55.77 NME7 0 genome.wustl.edu 37 1 169199982 169199982 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 169199982 169199982 G T SNP NME7 ENST00000367811 human ensembl 74_37 -1 known silent c.964 p.R322 0.999 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase - no_errors NME7 HGNC ENSG00000143156 38 0 0.00 34 2 5.56 NME8 0 genome.wustl.edu 37 7 37924817 37924817 + Silent SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 37924817 37924817 A C SNP NME8 ENST00000199447 human ensembl 74_37 +1 known silent c.1210 p.R404 0.898 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 81 0 0.00 53 15 22.06 NOL4 0 genome.wustl.edu 37 18 31599532 31599532 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 18 31599532 31599532 T C SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.806 p.E269G 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 61 0 0.00 32 21 38.89 NOXO1 0 genome.wustl.edu 37 16 2031151 2031151 + Silent SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 2031151 2031151 C A SNP NOXO1 ENST00000397280 human ensembl 74_37 -1 known silent c.30 p.V10 0.003 superfamily_Phox,pfscan_Phox pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC ENSG00000196408 tier1 - - 115 0 0.00 71 17 19.32 NPEPL1 0 genome.wustl.edu 37 20 57289051 57289051 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 57289051 57289051 A G SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.1204 p.R402G 0.768 pfam_Peptidase_M17_C pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 tier1 - - 103 0 0.00 54 53 49.53 NRG1 0 genome.wustl.edu 37 8 32617883 32617883 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 32617883 32617883 A G SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.1251 p.R417 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 tier1 - - 34 0 0.00 23 20 46.51 NRG2 0 genome.wustl.edu 37 5 139422014 139422015 + Frame_Shift_Ins INS - - G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 139422014 139422015 - G INS NRG2 ENST00000545385 human ensembl 74_37 -1 known frame_shift_ins c.641_640 p.L214fs 1.000:1.000 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 tier1 110 0 0.00 37 28 43.08 NRP2 0 genome.wustl.edu 37 2 206641091 206641091 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 206641091 206641091 G A SNP NRP2 ENST00000272849 human ensembl 74_37 +1 known silent c.2562 p.A854 0.891 pirsf_Neuropilin,pfam_Neuropilin1_C pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_Neuropilin1_C,pfam_MAM_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 47 0 0.00 49 4 7.55 NRXN2 0 genome.wustl.edu 37 11 64415728 64415728 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 64415728 64415728 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.3366 p.C1122 1.000 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 - - 54 0 0.00 27 9 25.00 NRXN2 0 genome.wustl.edu 37 11 64434791 64434791 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 64434791 64434791 G T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known silent c.1729 p.R577 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 85 0 0.00 35 2 5.26 NTM 0 genome.wustl.edu 37 11 132205623 132205624 + RNA INS - - T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 132205623 132205624 - T INS NTM ENST00000474900 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NTM HGNC ENSG00000182667 tier1 35 0 0.00 15 5 25.00 NTRK3 0 genome.wustl.edu 37 15 88474441 88474441 + RNA SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 88474441 88474441 T C SNP NTRK3 ENST00000559680 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 104 0 0.00 54 15 21.74 NUMA1 0 genome.wustl.edu 37 11 71725098 71725098 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 71725098 71725098 C T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.3451 p.E1151K 0.041 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 67 0 0.00 37 2 5.13 NUP210 0 genome.wustl.edu 37 3 13429848 13429848 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 13429848 13429848 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.639 p.T213 0.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 38 0 0.00 16 10 38.46 OR10J1 0 genome.wustl.edu 37 1 159409982 159409982 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 159409982 159409982 T G SNP OR10J1 ENST00000423932 human ensembl 74_37 +1 known missense c.434 p.V145G 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 OR10J1 HGNC ENSG00000196184 tier1 - - 80 0 0.00 64 19 22.89 OR11H12 0 genome.wustl.edu 37 14 19378218 19378218 + Nonsense_Mutation SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 19378218 19378218 A T SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known nonsense c.625 p.R209* 0.065 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 tier1 - - 42 0 0.00 18 6 25.00 OR2B3 0 genome.wustl.edu 37 6 29054257 29054257 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 29054257 29054257 A C SNP OR2B3 ENST00000377173 human ensembl 74_37 -1 known missense c.769 p.Y257D 0.397 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B3 HGNC ENSG00000204703 tier1 - - 30 0 0.00 14 16 53.33 OR2T12 0 genome.wustl.edu 37 1 248458213 248458213 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 248458213 248458213 A C SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.668 p.V223G 0.064 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 tier1 - - 133 0 0.00 78 32 29.09 OR4C15 0 genome.wustl.edu 37 11 55322171 55322171 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 55322171 55322171 T G SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.389 p.I130S 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 65 0 0.00 50 13 20.63 OR4C3 0 genome.wustl.edu 37 11 48346846 48346846 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 48346846 48346846 T C SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known silent c.354 p.S118 0.020 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 OR4C3 HGNC ENSG00000176547 tier1 - - 111 0 0.00 51 13 20.31 OR4P4 0 genome.wustl.edu 37 11 55406320 55406320 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 55406320 55406320 T C SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.487 p.F163L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4P4 HGNC ENSG00000181927 tier1 - - 59 0 0.00 31 14 31.11 OR4S2 0 genome.wustl.edu 37 11 55418427 55418427 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 55418427 55418427 T C SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known silent c.48 p.S16 0.042 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 tier1 - - 56 0 0.00 19 56 74.67 OR51F1 0 genome.wustl.edu 37 11 4790663 4790663 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 4790663 4790663 A C SNP OR51F1 ENST00000380383 human ensembl 74_37 -1 known missense c.506 p.L169R 0.102 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F1 HGNC ENSG00000188069 tier1 - - 53 0 0.00 23 7 23.33 OR5I1 0 genome.wustl.edu 37 11 55703776 55703776 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 55703776 55703776 A G SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.101 p.L34P 0.980 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 tier1 - - 50 0 0.00 20 9 31.03 OR5L2 0 genome.wustl.edu 37 11 55595355 55595355 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 55595355 55595355 A C SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.661 p.I221L 0.882 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 tier1 - - 71 0 0.00 43 11 20.00 OR5T2 0 genome.wustl.edu 37 11 55999981 55999981 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 55999981 55999981 A G SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.681 p.S227 0.001 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 OR5T2 HGNC ENSG00000181718 tier1 - - 96 0 0.00 43 28 39.44 OR5T3 0 genome.wustl.edu 37 11 56020014 56020014 + Silent SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 56020014 56020014 C A SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known silent c.339 p.V113 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 tier1 - - 106 0 0.00 47 15 24.19 OR6F1 0 genome.wustl.edu 37 1 247875936 247875936 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 247875936 247875936 C T SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.122 p.G41D 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 tier1 - - 37 0 0.00 25 4 13.79 OR7C2 0 genome.wustl.edu 37 19 15052988 15052988 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 15052988 15052988 G T SNP OR7C2 ENST00000248072 human ensembl 74_37 +1 known missense c.688 p.A230S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C2 HGNC ENSG00000127529 66 0 0.00 65 6 8.45 OR7G2 0 genome.wustl.edu 37 19 9213844 9213844 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 9213844 9213844 C T SNP OR7G2 ENST00000305456 human ensembl 74_37 -1 known missense c.139 p.V47I 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G2 HGNC ENSG00000170923 tier1 rs201831795 - 71 0 0.00 35 20 36.36 OR8J3 0 genome.wustl.edu 37 11 55905031 55905031 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 55905031 55905031 A C SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.164 p.L55R 0.930 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 tier1 - - 96 0 0.00 48 17 26.15 OSR1 0 genome.wustl.edu 37 2 19552116 19552117 + Frame_Shift_Ins INS - - GAAT TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 19552116 19552117 - GAAT INS OSR1 ENST00000272223 human ensembl 74_37 -1 known frame_shift_ins c.721_720 p.C240fs 1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 tier1 31 0 0.00 36 5 12.20 P2RY1 0 genome.wustl.edu 37 3 152553640 152553640 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 152553640 152553640 G A SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known silent c.69 p.S23 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 tier1 - - 154 0 0.00 30 52 63.41 PAH 0 genome.wustl.edu 37 12 103288680 103288680 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 103288680 103288680 A C SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.185 p.L62R 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 44 0 0.00 18 3 14.29 PCDH9 0 genome.wustl.edu 37 13 67799672 67799672 + Silent SNP G G C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 67799672 67799672 G C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.2901 p.L967 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 39 0 0.00 38 7 15.56 PCDHB18 0 genome.wustl.edu 37 5 140615746 140615746 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 140615746 140615746 G A SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.936 - - - no_errors PCDHB18 HGNC ENSG00000146001 tier1 - - 236 0 0.00 134 64 32.32 PCLO 0 genome.wustl.edu 37 7 82584392 82584392 + Silent SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 82584392 82584392 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.5877 p.S1959 0.980 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 - - 81 0 0.00 36 22 37.93 PCNXL3 0 genome.wustl.edu 37 11 65389815 65389815 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 65389815 65389815 G A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.2335 p.A779T 0.963 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 tier1 - - 101 0 0.00 45 22 32.35 PDE2A 0 genome.wustl.edu 37 11 72288494 72288494 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 72288494 72288494 G A SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known silent c.2760 p.Y920 0.086 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 tier1 - - 79 0 0.00 66 4 5.71 PDZRN3 0 genome.wustl.edu 37 3 73673769 73673769 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 73673769 73673769 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.208 p.P70S 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 85 0 0.00 53 4 7.02 PGBD4 0 genome.wustl.edu 37 15 34396476 34396476 + Frame_Shift_Del DEL A A - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 34396476 34396476 A - DEL PGBD4 ENST00000397766 human ensembl 74_37 +1 known frame_shift_del c.1744 p.N584fs 0.177 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 tier1 25 0 0.00 29 2 6.45 PHACTR2 0 genome.wustl.edu 37 6 144033170 144033170 + Frame_Shift_Del DEL G G - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 144033170 144033170 G - DEL PHACTR2 ENST00000440869 human ensembl 74_37 +1 known frame_shift_del c.64 p.A22fs 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 tier1 86 0 0.00 60 12 16.67 PHF1 0 genome.wustl.edu 37 6 33380096 33380097 + Frame_Shift_Ins INS - - T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 33380096 33380097 - T INS PHF1 ENST00000374516 human ensembl 74_37 +1 known frame_shift_ins c.56_57 p.S20fs 0.147:0.340 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF1 HGNC ENSG00000112511 tier1 67 0 0.00 70 13 15.66 PHF15 0 genome.wustl.edu 37 5 133880214 133880214 + RNA DEL A A - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 133880214 133880214 A - DEL PHF15 ENST00000453515 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PHF15 HGNC ENSG00000043143 tier1 11 0 0.00 4 2 33.33 PHKB 0 genome.wustl.edu 37 16 47730372 47730372 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 47730372 47730372 G T SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.2976 p.Q992H 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 tier1 - - 48 0 0.00 72 4 5.26 PIAS1 0 genome.wustl.edu 37 15 68434296 68434296 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 68434296 68434296 G T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.482 p.S161I 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 tier1 - - 59 0 0.00 38 4 9.52 PLA2G4D 0 genome.wustl.edu 37 15 42377325 42377325 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 42377325 42377325 G T SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known missense c.440 p.P147Q 0.976 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 35 0 0.00 34 2 5.56 PLEK 0 genome.wustl.edu 37 2 68607874 68607874 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 68607874 68607874 C T SNP PLEK ENST00000234313 human ensembl 74_37 +1 known missense c.218 p.T73M 0.719 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK HGNC ENSG00000115956 tier1 rs200352669 - 43 0 0.00 34 9 20.93 PLOD3 0 genome.wustl.edu 37 7 100850972 100850972 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 100850972 100850972 G A SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.1822 p.P608S 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 126 0 0.00 75 4 5.06 POMZP3 0 genome.wustl.edu 37 7 76240862 76240862 + Nonsense_Mutation SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 76240862 76240862 T A SNP POMZP3 ENST00000310842 human ensembl 74_37 -1 known nonsense c.484 p.K162* 0.952 NULL pfam_ZP_dom - no_errors POMZP3 HGNC ENSG00000146707 tier1 - - 27 0 0.00 18 8 30.77 POU2F1 0 genome.wustl.edu 37 1 167343365 167343365 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 167343365 167343365 G T SNP POU2F1 ENST00000367866 human ensembl 74_37 +1 known missense c.423 p.Q141H 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 70 0 0.00 59 4 6.35 PPM1D 0 genome.wustl.edu 37 17 58740749 58740749 + Nonsense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 58740749 58740749 C T SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known nonsense c.1654 p.R552* 0.999 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 tier1 - - 46 0 0.00 20 33 62.26 PPP1R3D 0 genome.wustl.edu 37 20 58514138 58514138 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 58514138 58514138 C T SNP PPP1R3D ENST00000370996 human ensembl 74_37 -1 known silent c.849 p.A283 0.026 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3D HGNC ENSG00000132825 43 0 0.00 34 2 5.56 PRB3 0 genome.wustl.edu 37 12 11420581 11420581 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 11420581 11420581 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.602 p.P201L 0.023 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 130 0 0.00 162 9 5.26 PREX2 0 genome.wustl.edu 37 8 68930087 68930087 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 68930087 68930087 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.148 p.L50 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 37 0 0.00 29 10 25.64 PRL 0 genome.wustl.edu 37 6 22287671 22287671 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 22287671 22287671 T C SNP PRL ENST00000306482 human ensembl 74_37 -1 known missense c.644 p.K215R 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 tier1 - - 49 0 0.00 45 10 18.18 PROSER1 0 genome.wustl.edu 37 13 39585557 39585557 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 39585557 39585557 G T SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known missense c.2780 p.A927E 0.328 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 58 0 0.00 66 4 5.71 PRSS35 0 genome.wustl.edu 37 6 84233305 84233305 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 84233305 84233305 G A SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.145 p.A49T 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 tier1 - - 68 0 0.00 64 4 5.88 PTMAP5 0 genome.wustl.edu 37 13 82264250 82264250 + RNA SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 82264250 82264250 C A SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.989 - - - no_errors PTMAP5 HGNC ENSG00000214182 tier1 - - 60 0 0.00 42 12 22.22 PTPRK 0 genome.wustl.edu 37 6 128298110 128298110 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 128298110 128298110 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.3852 p.G1284 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 64 0 0.00 56 4 6.67 PTPRK 0 genome.wustl.edu 37 6 128321471 128321471 + RNA SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 128321471 128321471 T A SNP PTPRK ENST00000524481 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 92 0 0.00 64 23 26.44 PTPRK 0 genome.wustl.edu 37 6 128321472 128321472 + RNA SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 128321472 128321472 C T SNP PTPRK ENST00000524481 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTPRK HGNC ENSG00000152894 tier1 - - 89 0 0.00 65 22 25.29 PUS3 0 genome.wustl.edu 37 11 125763901 125763901 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 125763901 125763901 G A SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.1225 p.R409C 0.988 NULL pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 92 0 0.00 32 2 5.88 RAPH1 0 genome.wustl.edu 37 2 204306090 204306090 + Frame_Shift_Del DEL G G - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 204306090 204306090 G - DEL RAPH1 ENST00000374493 human ensembl 74_37 -1 known frame_shift_del c.1979 p.P660fs 0.975 superfamily_Kinase-like_dom pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 tier1 24 0 0.00 27 2 6.90 RBM42 0 genome.wustl.edu 37 19 36122048 36122048 + Missense_Mutation SNP C C G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 36122048 36122048 C G SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.289 p.Q97E 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 tier1 - - 67 0 0.00 36 9 20.00 RFTN1 0 genome.wustl.edu 37 3 16419421 16419421 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 16419421 16419421 C T SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known silent c.630 p.V210 0.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 tier1 - - 83 0 0.00 38 10 20.83 RGPD3 0 genome.wustl.edu 37 2 107040934 107040934 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 107040934 107040934 T G SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.3489 p.K1163N 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 151 0 0.00 106 25 19.08 RGS12 0 genome.wustl.edu 37 4 3418674 3418674 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 3418674 3418674 G A SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.2462 p.R821H 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 55 0 0.00 22 9 29.03 RGS6 0 genome.wustl.edu 37 14 73006768 73006768 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 73006768 73006768 G A SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.1388 p.R463H 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 73 0 0.00 23 24 51.06 RIMBP2 0 genome.wustl.edu 37 12 130929802 130929802 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 130929802 130929802 G T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.543 p.F181L 0.953 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 54 0 0.00 48 3 5.88 RIMS2 0 genome.wustl.edu 37 8 104924382 104924382 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 104924382 104924382 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1794 p.G598 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 55 0 0.00 33 17 34.00 RIMS2 0 genome.wustl.edu 37 8 105235954 105235954 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 105235954 105235954 G T SNP RIMS2 ENST00000339750 human ensembl 74_37 +1 known silent c.75 p.L25 0.970 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 113 0 0.00 55 25 31.25 RIPK1 0 genome.wustl.edu 37 6 3078089 3078089 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 3078089 3078089 G A SNP RIPK1 ENST00000259808 human ensembl 74_37 +1 known missense c.241 p.V81I 0.058 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 53 0 0.00 56 3 5.08 RNF150 0 genome.wustl.edu 37 4 141888806 141888806 + Nonsense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 141888806 141888806 G A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known nonsense c.706 p.R236* 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 56 0 0.00 19 3 13.64 ROS1 0 genome.wustl.edu 37 6 117632255 117632255 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 117632255 117632255 A C SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.6161 p.V2054G 0.753 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 40 0 0.00 41 4 8.89 RTN3 0 genome.wustl.edu 37 11 63487976 63487976 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 63487976 63487976 G T SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.2002 p.D668Y 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 - - 43 0 0.00 29 3 9.09 RYR3 0 genome.wustl.edu 37 15 33895328 33895328 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 33895328 33895328 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1927 p.R643W 1.000 pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 38 0 0.00 22 12 35.29 SACS 0 genome.wustl.edu 37 13 23912160 23912160 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 23912160 23912160 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.5855 p.V1952G 0.998 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 32 0 0.00 19 28 59.57 SAFB2 0 genome.wustl.edu 37 19 5600224 5600224 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 5600224 5600224 T C SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known missense c.1607 p.K536R 0.350 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 62 0 0.00 36 2 5.26 SAGE1 0 genome.wustl.edu 37 X 134992321 134992321 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 134992321 134992321 G A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.1856 p.R619K 0.085 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 tier1 - - 43 0 0.00 22 13 37.14 SAMD9L 0 genome.wustl.edu 37 7 92763467 92763467 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 92763467 92763467 G T SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.1818 p.N606K 0.694 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 79 0 0.00 66 4 5.71 SAP130 0 genome.wustl.edu 37 2 128757709 128757709 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 128757709 128757709 G A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known silent c.1107 p.F369 0.997 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 25 0 0.00 16 2 11.11 SCN10A 0 genome.wustl.edu 37 3 38783782 38783782 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 38783782 38783782 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.2106 p.I702 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 tier1 - - 24 0 0.00 12 4 25.00 SDR16C5 0 genome.wustl.edu 37 8 57224771 57224771 + Missense_Mutation SNP C C G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 57224771 57224771 C G SNP SDR16C5 ENST00000303749 human ensembl 74_37 -1 known missense c.410 p.C137S 0.842 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 tier1 - - 77 0 0.00 25 36 59.02 SEC31B 0 genome.wustl.edu 37 10 102248621 102248621 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 102248621 102248621 A G SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known silent c.3282 p.T1094 0.077 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 55 0 0.00 35 3 7.89 SEPT2 0 genome.wustl.edu 37 2 242277134 242277134 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 242277134 242277134 G T SNP SEPT2 ENST00000360051 human ensembl 74_37 +1 known missense c.523 p.V175L 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2 - no_errors SEPT2 HGNC ENSG00000168385 tier1 - - 48 0 0.00 47 5 9.43 SERF2 0 genome.wustl.edu 37 15 44069382 44069382 + RNA SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 44069382 44069382 G T SNP SERF2 ENST00000474290 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SERF2 HGNC ENSG00000140264 tier1 - - 48 0 0.00 44 4 8.33 SERPINB9 0 genome.wustl.edu 37 6 2890645 2890645 + Nonsense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 2890645 2890645 G A SNP SERPINB9 ENST00000380698 human ensembl 74_37 -1 known nonsense c.883 p.Q295* 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 tier1 - - 71 0 0.00 48 4 7.69 SETDB2 0 genome.wustl.edu 37 13 50042008 50042008 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 50042008 50042008 C T SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known missense c.253 p.P85S 0.029 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 tier1 - - 52 0 0.00 63 4 5.97 SEZ6L 0 genome.wustl.edu 37 22 26688607 26688607 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 26688607 26688607 G A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.330 p.K110 0.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 134 0 0.00 69 33 32.35 SIN3A 0 genome.wustl.edu 37 15 75705182 75705182 + Silent SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 75705182 75705182 A G SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known silent c.678 p.H226 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 tier1 - - 59 0 0.00 66 14 17.50 SIPA1L1 0 genome.wustl.edu 37 14 72206004 72206004 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 72206004 72206004 G A SNP SIPA1L1 ENST00000554874 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 73 0 0.00 32 4 11.11 SLC1A3 0 genome.wustl.edu 37 5 36608463 36608463 + RNA SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 36608463 36608463 C T SNP SLC1A3 ENST00000506725 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors SLC1A3 HGNC ENSG00000079215 tier1 - - 38 0 0.00 41 15 26.79 SLC6A10P 0 genome.wustl.edu 37 16 32893398 32893398 + RNA SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 32893398 32893398 A C SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 0.980 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 22 0 0.00 7 6 46.15 SLC6A2 0 genome.wustl.edu 37 16 55733505 55733505 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 55733505 55733505 G A SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.1529 p.G510E 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 tier1 - - 92 0 0.00 56 17 23.29 SLC9A2 0 genome.wustl.edu 37 2 103321112 103321112 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 103321112 103321112 G T SNP SLC9A2 ENST00000233969 human ensembl 74_37 +1 known missense c.1955 p.S652I 0.997 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A2 HGNC ENSG00000115616 tier1 - - 52 0 0.00 33 4 10.81 SLC9A4 0 genome.wustl.edu 37 2 103148843 103148843 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 103148843 103148843 G T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.2093 p.R698L 0.000 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 67 0 0.00 43 3 6.52 SLIT2 0 genome.wustl.edu 37 4 20569203 20569203 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 20569203 20569203 T C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.2913 p.T971 0.984 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 tier1 - - 65 0 0.00 27 14 34.15 SLITRK4 0 genome.wustl.edu 37 X 142718596 142718596 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 142718596 142718596 T G SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.329 p.K110T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 tier1 - - 54 0 0.00 24 20 45.45 SMARCC2 0 genome.wustl.edu 37 12 56557548 56557551 + Frame_Shift_Del DEL GTCT GTCT - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 GTCT GTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 56557548 56557551 GTCT - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.3570_3569 p.D1190fs 1.000:1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 tier1 84 0 0.00 56 27 32.53 SMPD3 0 genome.wustl.edu 37 16 68405587 68405587 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 68405587 68405587 C T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known silent c.498 p.Q166 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 53 0 0.00 29 2 6.45 SNAP91 0 genome.wustl.edu 37 6 84265929 84265929 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 84265929 84265929 G T SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known silent c.2667 p.P889 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 51 0 0.00 72 4 5.26 SNORA35 0 genome.wustl.edu 37 X 113865309 113865309 + RNA SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 113865309 113865309 A G SNP SNORA35 ENST00000386104 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA35 HGNC ENSG00000208839 tier1 - - 18 0 0.00 14 12 46.15 SNORD114-19 0 genome.wustl.edu 37 14 101442866 101442866 + RNA SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 14 101442866 101442866 G A SNP SNORD114-19 ENST00000363072 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-19 HGNC ENSG00000199942 tier1 - - 116 0 0.00 59 62 51.24 SNTG2 0 genome.wustl.edu 37 2 1271173 1271173 + Silent SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 1271173 1271173 T C SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known silent c.1114 p.L372 0.938 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 77 0 0.00 41 8 16.33 SNX21 0 genome.wustl.edu 37 20 44469672 44469672 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 44469672 44469672 G A SNP SNX21 ENST00000491381 human ensembl 74_37 +1 known missense c.842 p.R281H 0.580 NULL pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX21 HGNC ENSG00000124104 tier1 - - 45 0 0.00 48 8 14.29 SNX33 0 genome.wustl.edu 37 15 75942122 75942122 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 75942122 75942122 C T SNP SNX33 ENST00000308527 human ensembl 74_37 +1 known missense c.679 p.P227S 1.000 superfamily_Phox,smart_Phox,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX33 HGNC ENSG00000173548 tier1 - - 68 0 0.00 45 12 21.05 SORCS3 0 genome.wustl.edu 37 10 106907421 106907421 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 10 106907421 106907421 T C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1349 p.V450A 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 74 0 0.00 44 13 22.81 SPHKAP 0 genome.wustl.edu 37 2 228883123 228883123 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 228883123 228883123 C T SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.2447 p.R816H 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 tier1 rs201425414 - 69 0 0.00 53 4 7.02 SPRED1 0 genome.wustl.edu 37 15 38545224 38545225 + RNA INS - - G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 38545224 38545225 - G INS SPRED1 ENST00000561205 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.996 - - - no_errors SPRED1 HGNC ENSG00000166068 tier1 26 0 0.00 15 6 28.57 SRSF1 0 genome.wustl.edu 37 17 56084379 56084379 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 17 56084379 56084379 G A SNP SRSF1 ENST00000258962 human ensembl 74_37 -1 known silent c.120 p.G40 0.998 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF1 HGNC ENSG00000136450 71 0 0.00 38 4 9.52 SSBP2 0 genome.wustl.edu 37 5 80762872 80762872 + Missense_Mutation SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 5 80762872 80762872 A T SNP SSBP2 ENST00000515395 human ensembl 74_37 -1 novel missense c.493 p.L165I 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 tier1 - - 70 0 0.00 40 20 33.33 ST3GAL6 0 genome.wustl.edu 37 3 98475373 98475373 + RNA SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 98475373 98475373 T C SNP ST3GAL6 ENST00000465004 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ST3GAL6 HGNC ENSG00000064225 tier1 - - 23 0 0.00 10 4 28.57 STAG1 0 genome.wustl.edu 37 3 136240195 136240195 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 136240195 136240195 C T SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.536 p.C179Y 1.000 pfam_STAG,superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 tier1 - - 64 0 0.00 52 4 7.14 STK25 0 genome.wustl.edu 37 2 242441080 242441080 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 242441080 242441080 C T SNP STK25 ENST00000316586 human ensembl 74_37 -1 known missense c.74 p.R25H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK25 HGNC ENSG00000115694 50 0 0.00 25 2 7.41 STX16 0 genome.wustl.edu 37 20 57251268 57251268 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 57251268 57251268 G A SNP STX16 ENST00000361830 human ensembl 74_37 +1 known missense c.899 p.R300Q 1.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16 HGNC ENSG00000124222 tier1 - - 42 0 0.00 41 35 46.05 STX17 0 genome.wustl.edu 37 9 102691114 102691114 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 102691114 102691114 C T SNP STX17 ENST00000259400 human ensembl 74_37 +1 known missense c.178 p.R60C 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX17 HGNC ENSG00000136874 tier1 - - 55 0 0.00 33 25 43.10 SVOPL 0 genome.wustl.edu 37 7 138279284 138279285 + RNA INS - - A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 138279284 138279285 - A INS SVOPL ENST00000463557 human ensembl 74_37 -1 known rna NULL NULL 0.030:0.003 - - - no_errors SVOPL HGNC ENSG00000157703 tier1 114 0 0.00 58 16 21.62 SYNE1 0 genome.wustl.edu 37 6 152765647 152765647 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 6 152765647 152765647 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.3736 p.E1246K 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 rs138915528 - 97 0 0.00 52 28 35.00 SYT17 0 genome.wustl.edu 37 16 19195254 19195254 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 19195254 19195254 G T SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known missense c.736 p.G246W 0.650 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 58 0 0.00 37 2 5.13 TAS2R60 0 genome.wustl.edu 37 7 143140667 143140667 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 143140667 143140667 C T SNP TAS2R60 ENST00000332690 human ensembl 74_37 +1 known missense c.122 p.A41V 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 tier1 - - 76 0 0.00 29 23 43.40 TBC1D23 0 genome.wustl.edu 37 3 100039744 100039744 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 100039744 100039744 A C SNP TBC1D23 ENST00000394144 human ensembl 74_37 +1 known missense c.1947 p.K649N 0.999 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 tier1 - - 41 0 0.00 31 8 20.51 TBC1D8 0 genome.wustl.edu 37 2 101654942 101654942 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 101654942 101654942 G T SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.1256 p.T419N 0.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 tier1 - - 37 0 0.00 14 18 56.25 TBX20 0 genome.wustl.edu 37 7 35244122 35244122 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 35244122 35244122 T G SNP TBX20 ENST00000408931 human ensembl 74_37 -1 known missense c.963 p.E321D 0.981 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC ENSG00000164532 tier1 - - 71 0 0.00 26 28 51.85 TGOLN2 0 genome.wustl.edu 37 2 85553696 85553696 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 85553696 85553696 C A SNP TGOLN2 ENST00000377386 human ensembl 74_37 -1 known missense c.1159 p.A387S 1.000 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 tier1 - - 41 0 0.00 11 8 42.11 THBD 0 genome.wustl.edu 37 20 23028837 23028837 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 23028837 23028837 G T SNP THBD ENST00000377103 human ensembl 74_37 -1 known missense c.1305 p.D435E 0.015 pirsf_CD93/CD141,pfam_Tme5_EGF-like,smart_EG-like_dom pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 tier1 - - 70 0 0.00 43 11 20.37 TIMELESS 0 genome.wustl.edu 37 12 56817448 56817448 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 56817448 56817448 C T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.2010 p.E670 0.863 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 28 0 0.00 17 3 15.00 TMPRSS11B 0 genome.wustl.edu 37 4 69100186 69100186 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 69100186 69100186 A G SNP TMPRSS11B ENST00000332644 human ensembl 74_37 -1 known missense c.464 p.L155P 0.020 pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11B HGNC ENSG00000185873 tier1 - - 68 0 0.00 39 9 18.75 TMPRSS15 0 genome.wustl.edu 37 21 19704467 19704467 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 21 19704467 19704467 G T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.1588 p.L530M 0.992 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 - - 48 0 0.00 36 4 10.00 TNC 0 genome.wustl.edu 37 9 117826297 117826297 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 9 117826297 117826297 C A SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.3538 p.A1180S 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 33 0 0.00 26 6 18.75 TNS1 0 genome.wustl.edu 37 2 218678420 218678420 + Nonsense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 218678420 218678420 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known nonsense c.4537 p.Q1513* 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 55 0 0.00 30 2 6.25 TPH2 0 genome.wustl.edu 37 12 72366400 72366400 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 72366400 72366400 G T SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.710 p.R237L 0.965 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 tier1 - - 69 0 0.00 43 4 8.33 TPH2 0 genome.wustl.edu 37 12 72388269 72388269 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 72388269 72388269 A C SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.992 p.K331T 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 tier1 - - 104 0 0.00 41 23 35.94 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5626645 5626645 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 11 5626645 5626645 C T SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.682 p.R228W 0.987 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 tier1 - - 60 0 0.00 15 23 60.53 TRIOBP 0 genome.wustl.edu 37 22 38151139 38151139 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 22 38151139 38151139 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.5519 p.R1840H 0.993 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 tier1 - - 27 0 0.00 19 15 44.12 TRPS1 0 genome.wustl.edu 37 8 116426999 116426999 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 116426999 116426999 T G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.3137 p.Q1046P 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 71 0 0.00 43 11 20.37 TSPY2 0 genome.wustl.edu 37 Y 6114771 6114771 + Silent SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b Y 6114771 6114771 C T SNP TSPY2 ENST00000320701 human ensembl 74_37 +1 known silent c.462 p.S154 0.775 pfam_NAP_family pfam_NAP_family - no_errors TSPY2 HGNC ENSG00000168757 tier1 - - 12 0 0.00 2 4 66.67 TTN 0 genome.wustl.edu 37 2 179402367 179402367 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 179402367 179402367 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.91863 p.L30621 0.973 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 93 0 0.00 65 26 28.57 TTN 0 genome.wustl.edu 37 2 179412266 179412266 + Missense_Mutation SNP C C T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 179412266 179412266 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.86383 p.V28795I 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 38 0 0.00 23 8 25.81 TTN 0 genome.wustl.edu 37 2 179429645 179429645 + Nonsense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 179429645 179429645 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.73510 p.E24504* 0.966 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 59 0 0.00 32 8 20.00 TTN 0 genome.wustl.edu 37 2 179472775 179472775 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 179472775 179472775 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45035 p.D15012A 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 36 0 0.00 20 8 28.57 TTN 0 genome.wustl.edu 37 2 179548772 179548772 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 179548772 179548772 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.29028 p.K9676N 0.093 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 108 0 0.00 87 23 20.91 TTN 0 genome.wustl.edu 37 2 179614061 179614061 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 179614061 179614061 G T SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.13066 p.Q4356K 0.060 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 48 0 0.00 45 14 23.73 TUBA3C 0 genome.wustl.edu 37 13 19751310 19751310 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 19751310 19751310 G T SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known silent c.813 p.T271 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom 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 - - 94 0 0.00 38 71 65.14 TXLNG 0 genome.wustl.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 16850849 16850850 AG - DEL TXLNG ENST00000380122 human ensembl 74_37 +1 known frame_shift_del c.968_969 p.R326fs 1.000:1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 tier1 48 0 0.00 18 3 14.29 UHRF1BP1L 0 genome.wustl.edu 37 12 100466569 100466569 + Missense_Mutation SNP C C A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 100466569 100466569 C A SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.1430 p.R477L 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 79 0 0.00 75 4 5.06 ULK3 0 genome.wustl.edu 37 15 75134697 75134697 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 15 75134697 75134697 A G SNP ULK3 ENST00000440863 human ensembl 74_37 -1 known missense c.167 p.V56A 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_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom - no_errors ULK3 HGNC ENSG00000140474 tier1 - - 47 0 0.00 36 4 10.00 UNC80 0 genome.wustl.edu 37 2 210704160 210704160 + Silent SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 210704160 210704160 A C SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known silent c.3256 p.R1086 0.978 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 62 0 0.00 41 15 26.79 UPF3A 0 genome.wustl.edu 37 13 115067491 115067491 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 13 115067491 115067491 G A SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known silent c.1293 p.L431 0.521 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 tier1 - - 44 0 0.00 36 7 16.28 USP42 0 genome.wustl.edu 37 7 6196639 6196639 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 6196639 6196639 G A SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.3896 p.R1299Q 0.199 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 tier1 - - 58 0 0.00 31 16 34.04 VAT1L 0 genome.wustl.edu 37 16 77918635 77918635 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 16 77918635 77918635 T G SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known missense c.1013 p.L338R 1.000 smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 tier1 - - 80 0 0.00 41 13 24.07 WASF2 0 genome.wustl.edu 37 1 27736419 27736419 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 27736419 27736419 G T SNP WASF2 ENST00000430629 human ensembl 74_37 -1 known missense c.1106 p.P369Q 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF2 HGNC ENSG00000158195 101 0 0.00 62 4 6.06 WASH6P 0 genome.wustl.edu 37 X 155250630 155250630 + RNA SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 155250630 155250630 G T SNP WASH6P ENST00000476066 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 180 0 0.00 87 32 26.89 WDR17 0 genome.wustl.edu 37 4 177095823 177095823 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 4 177095823 177095823 A G SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.3520 p.R1174G 0.980 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 119 0 0.00 39 4 9.30 WDR33 0 genome.wustl.edu 37 2 128477228 128477228 + Frame_Shift_Del DEL G G - TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 128477228 128477228 G - DEL WDR33 ENST00000322313 human ensembl 74_37 -1 known frame_shift_del c.2371 p.R791fs 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 tier1 41 0 0.00 25 2 7.41 WHSC1L1 0 genome.wustl.edu 37 8 38187059 38187059 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 38187059 38187059 G T SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.1418 p.A473E 1.000 NULL 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 - - 100 0 0.00 91 6 6.19 XDH 0 genome.wustl.edu 37 2 31598302 31598302 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 2 31598302 31598302 A C SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.1546 p.F516V 1.000 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 47 0 0.00 34 8 19.05 XIRP1 0 genome.wustl.edu 37 3 39229334 39229334 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 39229334 39229334 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.1603 p.R535W 0.994 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 tier1 - - 68 0 0.00 40 10 20.00 XIST 0 genome.wustl.edu 37 X 73062940 73062940 + RNA SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b X 73062940 73062940 A C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 25 0 0.00 24 6 19.35 XPC 0 genome.wustl.edu 37 3 14187441 14187441 + Nonstop_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 14187441 14187441 T C SNP XPC ENST00000285021 human ensembl 74_37 -1 known nonstop c.2823 p.*941W 0.998 NULL pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC ENSG00000154767 tier1 - - 41 0 0.00 27 4 12.90 ZBTB20 0 genome.wustl.edu 37 3 114057910 114057910 + Missense_Mutation SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 3 114057910 114057910 T G SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.2168 p.K723T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 - - 41 0 0.00 30 8 21.05 ZBTB7B 0 genome.wustl.edu 37 1 154987712 154987712 + Silent SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 1 154987712 154987712 G T SNP ZBTB7B ENST00000417934 human ensembl 74_37 +1 known silent c.678 p.P226 0.046 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7B HGNC ENSG00000160685 49 0 0.00 34 3 8.11 ZC3H10 0 genome.wustl.edu 37 12 56515093 56515093 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 12 56515093 56515093 G T SNP ZC3H10 ENST00000257940 human ensembl 74_37 +1 known missense c.747 p.K249N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 tier1 - - 47 0 0.00 45 4 8.16 ZFHX4 0 genome.wustl.edu 37 8 77617713 77617713 + Missense_Mutation SNP A A G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 77617713 77617713 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.1390 p.S464G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 16 0 0.00 14 3 17.65 ZFP30 0 genome.wustl.edu 37 19 38126486 38126486 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 38126486 38126486 A C SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.956 p.L319R 0.930 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 ZFP30 HGNC ENSG00000120784 tier1 - - 64 0 0.00 39 15 27.78 ZFPM2 0 genome.wustl.edu 37 8 106813335 106813335 + Missense_Mutation SNP A A C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 106813335 106813335 A C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1025 p.Y342S 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 66 0 0.00 43 8 15.69 ZNF251 0 genome.wustl.edu 37 8 145979173 145979174 + Frame_Shift_Ins INS - - A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 8 145979173 145979174 - A INS ZNF251 ENST00000292562 human ensembl 74_37 -1 known frame_shift_ins c.172_171 p.V57fs 0.159:0.156 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 tier1 28 0 0.00 23 5 17.86 ZNF304 0 genome.wustl.edu 37 19 57868215 57868215 + Missense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 57868215 57868215 G T SNP ZNF304 ENST00000282286 human ensembl 74_37 +1 known missense c.978 p.Q326H 0.993 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 ZNF304 HGNC ENSG00000131845 59 0 0.00 54 4 6.90 ZNF486 0 genome.wustl.edu 37 19 20308762 20308762 + Missense_Mutation SNP T T C TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 20308762 20308762 T C SNP ZNF486 ENST00000335117 human ensembl 74_37 +1 known missense c.1243 p.Y415H 0.039 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 ZNF486 HGNC ENSG00000256229 tier1 - - 55 0 0.00 35 20 36.36 ZNF578 0 genome.wustl.edu 37 19 52960340 52960340 + RNA SNP T T A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 52960340 52960340 T A SNP ZNF578 ENST00000596382 human ensembl 74_37 +1 known rna NULL NULL 0.072 - - - no_errors ZNF578 HGNC ENSG00000258405 tier1 - - 23 0 0.00 13 4 23.53 ZNF681 0 genome.wustl.edu 37 19 23927700 23927700 + Silent SNP T T G TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 23927700 23927700 T G SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known silent c.652 p.R218 0.100 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 ZNF681 HGNC ENSG00000196172 tier1 - - 92 0 0.00 57 28 32.94 ZNF746 0 genome.wustl.edu 37 7 149190005 149190005 + Nonsense_Mutation SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 149190005 149190005 G T SNP ZNF746 ENST00000458143 human ensembl 74_37 -1 known nonsense c.465 p.C155* 0.891 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF746 HGNC ENSG00000181220 tier1 - - 132 0 0.00 52 4 7.14 ZNF831 0 genome.wustl.edu 37 20 57767649 57767650 + Frame_Shift_Ins INS - - T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 20 57767649 57767650 - T INS ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_ins c.1575_1576 p.W525fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 12 0 0.00 8 5 38.46 ZNF90 0 genome.wustl.edu 37 19 20191096 20191096 + RNA SNP G G T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 20191096 20191096 G T SNP ZNF90 ENST00000492328 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF90 HGNC ENSG00000213988 tier1 - - 31 0 0.00 25 4 13.79 ZNF99 0 genome.wustl.edu 37 19 22940806 22940806 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 19 22940806 22940806 G A SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known silent c.1632 p.T544 0.112 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 ZNF99 HGNC ENSG00000213973 64 0 0.00 49 4 7.55 ZP3 0 genome.wustl.edu 37 7 76069838 76069838 + Nonsense_Mutation SNP A A T TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1398379-1db8-45d7-8512-843ee72e41e4 318a6760-71e3-46d3-a95e-9ea2e338161b 7 76069838 76069838 A T SNP ZP3 ENST00000394857 human ensembl 74_37 +1 known nonsense c.970 p.K324* 0.000 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP3 HGNC ENSG00000188372 tier1 - - 88 0 0.00 63 12 16.00