Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ABCA2 20 genome.wustl.edu 37 9 139908007 139908007 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 9 139908007 139908007 G A SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known missense c.4456 p.P1486S 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ABCB4 5244 genome.wustl.edu 37 7 87082375 87082375 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 7 87082375 87082375 C T SNP ABCB4 ENST00000265723 human ensembl 70_37 -1 known missense c.421 p.A141T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC AK5 26289 genome.wustl.edu 37 1 77763549 77763549 + Silent SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 77763549 77763549 T C SNP AK5 ENST00000354567 human ensembl 70_37 +1 known silent c.616 p.L206 0.999 pfam_Adenylate_kin pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ANGPT1 284 genome.wustl.edu 37 8 108297059 108297060 + Frame_Shift_Ins INS - - GA TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 8 108297059 108297060 - GA INS ANGPT1 ENST00000517746 human ensembl 70_37 -1 known frame_shift_ins c.1056_1055 p.G353fs 0.742:0.996 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT1 HGNC ANO7 50636 genome.wustl.edu 37 2 242149950 242149950 + Missense_Mutation SNP T T A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 242149950 242149950 T A SNP ANO7 ENST00000274979 human ensembl 70_37 +1 known missense c.1688 p.I563N 0.992 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ARL5B 221079 genome.wustl.edu 37 10 18961578 18961578 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 10 18961578 18961578 G T SNP ARL5B ENST00000377275 human ensembl 70_37 +1 known missense c.283 p.D95Y 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5B HGNC ATP6V0A1 535 genome.wustl.edu 37 17 40618526 40618526 + Splice_Site SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 17 40618526 40618526 G C SNP ATP6V0A1 ENST00000264649 human ensembl 70_37 +1 known splice_site c.196+1 e2+1 1.000 - - - no_errors ATP6V0A1 HGNC B3GNTL1 146712 genome.wustl.edu 37 17 80972328 80972328 + Splice_Site SNP A A T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 17 80972328 80972328 A T SNP B3GNTL1 ENST00000320865 human ensembl 70_37 -1 known splice_site c.408+2 e5+2 0.093 - - - no_errors B3GNTL1 HGNC BACH2 60468 genome.wustl.edu 37 6 90647929 90647929 + Silent SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 6 90647929 90647929 C T SNP BACH2 ENST00000257749 human ensembl 70_37 -1 known silent c.1977 p.A659 0.024 pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC C11orf48 79081 genome.wustl.edu 37 11 62432618 62432618 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 62432618 62432618 G A SNP C11orf48 ENST00000524958 human ensembl 70_37 -1 putative silent c.24 p.I8 1.000 NULL NULL - no_errors C11orf48 HGNC C14orf164 100507650 genome.wustl.edu 37 14 23733863 23733863 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 14 23733863 23733863 C T SNP C14orf164 ENST00000430154 human ensembl 70_37 +1 known missense c.617 p.P206L 1.000 NULL NULL - no_errors C14orf164 HGNC CAPN8 388743 genome.wustl.edu 37 1 223842102 223842102 + Splice_Site SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 223842102 223842102 C G SNP CAPN8 ENST00000366872 human ensembl 70_37 -1 known splice_site c.238-1 e2-1 1.000 - - - no_errors CAPN8 HGNC CDPF1 150383 genome.wustl.edu 37 22 46641057 46641057 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 22 46641057 46641057 G A SNP CDPF1 ENST00000314567 human ensembl 70_37 -1 novel missense c.304 p.R102W 0.681 pfam_Cys-rich_DPF pfam_Cys-rich_DPF,prints_Cys-rich_DPF - no_errors CDPF1 HGNC COL6A5 256076 genome.wustl.edu 37 3 130095298 130095298 + Missense_Mutation SNP C C A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 3 130095298 130095298 C A SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.286 p.H96N 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC CTDSPL2 51496 genome.wustl.edu 37 15 44783040 44783040 + Silent SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 15 44783040 44783040 A G SNP CTDSPL2 ENST00000260327 human ensembl 70_37 +1 known silent c.534 p.Q178 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC CYP2A13 1553 genome.wustl.edu 37 19 41601815 41601815 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 41601815 41601815 G A SNP CYP2A13 ENST00000330436 human ensembl 70_37 +1 known missense c.1454 p.R485Q 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC DMD 1756 genome.wustl.edu 37 X 32398677 32398677 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 32398677 32398677 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.4795 p.A1599T 0.953 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DNAH3 55567 genome.wustl.edu 37 16 21145629 21145629 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 16 21145629 21145629 G T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.1033 p.H345N 0.929 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000205830 0 genome.wustl.edu 37 4 27209653 27209654 + RNA DEL GT GT - TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 27209653 27209654 GT - DEL ENSG00000205830 ENST00000382007 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC024132.1 Clone_based_vega_gene ENSG00000260544 0 genome.wustl.edu 37 16 32141827 32141827 + RNA SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 16 32141827 32141827 A G SNP ENSG00000260544 ENST00000568083 human ensembl 70_37 +1 known rna NULL NULL 0.110 - - - no_errors RP11-1166P10.9 Clone_based_vega_gene FAM132A 388581 genome.wustl.edu 37 1 1177985 1177985 + Silent SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 1177985 1177985 C T SNP FAM132A ENST00000330388 human ensembl 70_37 -1 known silent c.852 p.G284 0.979 superfamily_Tumour_necrosis_fac-like superfamily_Tumour_necrosis_fac-like - no_errors FAM132A HGNC FAM73B 84895 genome.wustl.edu 37 9 131822885 131822885 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 9 131822885 131822885 G C SNP FAM73B ENST00000358369 human ensembl 70_37 +1 known missense c.850 p.E284Q 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC FCGBP 8857 genome.wustl.edu 37 19 40424127 40424127 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 40424127 40424127 G C SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.2076 p.D692E 0.999 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FFAR3 2865 genome.wustl.edu 37 19 35849932 35849932 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 35849932 35849932 C G SNP FFAR3 ENST00000327809 human ensembl 70_37 +1 known missense c.140 p.P47R 0.395 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept - no_errors FFAR3 HGNC FLNA 2316 genome.wustl.edu 37 X 153589834 153589834 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 153589834 153589834 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.3049 p.P1017S 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FREM3 166752 genome.wustl.edu 37 4 144498997 144498997 + Missense_Mutation SNP C C A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 144498997 144498997 C A SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative missense c.6187 p.D2063Y 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC FRG2B 441581 genome.wustl.edu 37 10 135438753 135438753 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 10 135438753 135438753 G A SNP FRG2B ENST00000443774 human ensembl 70_37 -1 known silent c.690 p.T230 0.707 NULL NULL - no_errors FRG2B HGNC GRAMD1B 57476 genome.wustl.edu 37 11 123477438 123477438 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 123477438 123477438 C T SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.1016 p.S339L 0.998 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC GXYLT1 283464 genome.wustl.edu 37 12 42512938 42512938 + Missense_Mutation SNP T T A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 12 42512938 42512938 T A SNP GXYLT1 ENST00000398675 human ensembl 70_37 -1 known missense c.350 p.H117L 1.000 NULL pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC IGFN1 91156 genome.wustl.edu 37 1 201184859 201184859 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 201184859 201184859 C T SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known missense c.9188 p.T3063M 0.460 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IL26 55801 genome.wustl.edu 37 12 68619364 68619364 + Splice_Site SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 12 68619364 68619364 A G SNP IL26 ENST00000229134 human ensembl 70_37 -1 known splice_site c.171+2 e1+2 1.000 - - - no_errors IL26 HGNC IRAK2 3656 genome.wustl.edu 37 3 10219598 10219598 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 3 10219598 10219598 G A SNP IRAK2 ENST00000256458 human ensembl 70_37 +1 known silent c.171 p.T57 0.036 pfam_Death,superfamily_DEATH-like pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK2 HGNC KHK 3795 genome.wustl.edu 37 2 27322557 27322557 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 27322557 27322557 G C SNP KHK ENST00000260598 human ensembl 70_37 +1 known missense c.836 p.R279T 0.931 pfam_PfkB pfam_PfkB - no_errors KHK HGNC KIAA0101 9768 genome.wustl.edu 37 15 64669055 64669055 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 15 64669055 64669055 G T SNP KIAA0101 ENST00000560234 human ensembl 70_37 -1 putative missense c.179 p.P60Q 0.990 NULL NULL - no_errors KIAA0101 HGNC KIAA1683 80726 genome.wustl.edu 37 19 18378102 18378102 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 18378102 18378102 C T SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known missense c.248 p.R83Q 0.305 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC KRTAP26-1 388818 genome.wustl.edu 37 21 31691800 31691800 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 21 31691800 31691800 G A SNP KRTAP26-1 ENST00000360542 human ensembl 70_37 -1 known missense c.554 p.P185L 0.999 pfam_PMG pfam_PMG - no_errors KRTAP26-1 HGNC LCORL 254251 genome.wustl.edu 37 4 17885634 17885634 + Silent SNP T T A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 17885634 17885634 T A SNP LCORL ENST00000382226 human ensembl 70_37 -1 known silent c.1518 p.G506 0.979 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCORL HGNC LIPE 3991 genome.wustl.edu 37 19 42911508 42911508 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 42911508 42911508 C G SNP LIPE ENST00000244289 human ensembl 70_37 -1 known missense c.1955 p.G652A 0.994 pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC LOC642633 642633 genome.wustl.edu 37 22 21538436 21538436 + RNA SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 22 21538436 21538436 A G SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors KB-1183D5.11 Clone_based_vega_gene LOC84856 84856 genome.wustl.edu 37 10 42971108 42971108 + RNA SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 10 42971108 42971108 T C SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-178A10.1 Clone_based_vega_gene LRRC16A 55604 genome.wustl.edu 37 6 25479389 25479389 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 6 25479389 25479389 C G SNP LRRC16A ENST00000377969 human ensembl 70_37 +1 known missense c.445 p.L149V 0.003 NULL NULL - no_errors LRRC16A HGNC LSP1 4046 genome.wustl.edu 37 11 1902741 1902741 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 1902741 1902741 C T SNP LSP1 ENST00000311604 human ensembl 70_37 +1 known missense c.271 p.R91W 0.473 prints_Lymphspecific pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC MASP2 10747 genome.wustl.edu 37 1 11106635 11106635 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 11106635 11106635 G A SNP MASP2 ENST00000400897 human ensembl 70_37 -1 known silent c.390 p.F130 0.999 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP2 HGNC MAST3 23031 genome.wustl.edu 37 19 18234034 18234034 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 18234034 18234034 C T SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.320 p.S107L 1.000 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC MSH2 4436 genome.wustl.edu 37 2 47639566 47639566 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 47639566 47639566 G T SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known missense c.659 p.G220V 1.000 pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt,pirsf_DNA_mismatch_repair_MSH2 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2 - no_errors MSH2 HGNC NOP14 8602 genome.wustl.edu 37 4 2949269 2949269 + Missense_Mutation SNP T T A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 2949269 2949269 T A SNP NOP14 ENST00000416614 human ensembl 70_37 -1 known missense c.1483 p.I495F 0.348 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC NPY5R 4889 genome.wustl.edu 37 4 164271435 164271435 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 164271435 164271435 G C SNP NPY5R ENST00000338566 human ensembl 70_37 +1 known missense c.10 p.E4Q 0.942 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY5R HGNC NTM 50863 genome.wustl.edu 37 11 132205130 132205130 + RNA SNP A A T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 132205130 132205130 A T SNP NTM ENST00000474900 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NTM HGNC OR51B4 79339 genome.wustl.edu 37 11 5322698 5322698 + Missense_Mutation SNP A A G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 5322698 5322698 A G SNP OR51B4 ENST00000380224 human ensembl 70_37 -1 known missense c.479 p.L160P 0.071 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B4 HGNC OR5D14 219436 genome.wustl.edu 37 11 55563486 55563486 + Missense_Mutation SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 55563486 55563486 T C SNP OR5D14 ENST00000335605 human ensembl 70_37 +1 known missense c.455 p.L152P 0.020 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC OR5D16 390144 genome.wustl.edu 37 11 55606424 55606424 + Missense_Mutation SNP A A C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 55606424 55606424 A C SNP OR5D16 ENST00000378396 human ensembl 70_37 +1 known missense c.197 p.N66T 0.992 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5D16 HGNC OR5D16 390144 genome.wustl.edu 37 11 55607128 55607128 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 55607128 55607128 G A SNP OR5D16 ENST00000378396 human ensembl 70_37 +1 known missense c.901 p.D301N 0.001 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5D16 HGNC PAPLN 89932 genome.wustl.edu 37 14 73719422 73719422 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 14 73719422 73719422 C T SNP PAPLN ENST00000427855 human ensembl 70_37 +1 known missense c.1033 p.R345C 0.496 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC PASD1 139135 genome.wustl.edu 37 X 150840915 150840915 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 150840915 150840915 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known silent c.1698 p.Q566 0.000 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC PASD1 139135 genome.wustl.edu 37 X 150840924 150840924 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 150840924 150840924 G A SNP PASD1 ENST00000370357 human ensembl 70_37 +1 known silent c.1707 p.E569 0.002 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC PCDHA8 56140 genome.wustl.edu 37 5 140222840 140222840 + Missense_Mutation SNP A A C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 5 140222840 140222840 A C SNP PCDHA8 ENST00000531613 human ensembl 70_37 +1 known missense c.1934 p.H645P 0.971 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC PDE1B 5153 genome.wustl.edu 37 12 54968932 54968932 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 12 54968932 54968932 G A SNP PDE1B ENST00000243052 human ensembl 70_37 +1 known missense c.1115 p.S372N 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC PRR12 57479 genome.wustl.edu 37 19 50119035 50119035 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 19 50119035 50119035 G T SNP PRR12 ENST00000418929 human ensembl 70_37 +1 novel missense c.5056 p.A1686S 0.003 NULL NULL - no_errors PRR12 HGNC RAD51AP1 10635 genome.wustl.edu 37 12 4657294 4657294 + Missense_Mutation SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 12 4657294 4657294 T C SNP RAD51AP1 ENST00000228843 human ensembl 70_37 +1 known missense c.407 p.M136T 0.000 NULL NULL - no_errors RAD51AP1 HGNC SAA1 6288 genome.wustl.edu 37 11 18290819 18290819 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 18290819 18290819 C T SNP SAA1 ENST00000356524 human ensembl 70_37 +1 known missense c.169 p.R57W 0.999 pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA1 HGNC SAA2 6289 genome.wustl.edu 37 11 18267518 18267518 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 18267518 18267518 G A SNP SAA2 ENST00000256733 human ensembl 70_37 -1 known missense c.169 p.R57W 0.987 pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA2 HGNC SAGE1 55511 genome.wustl.edu 37 X 134994496 134994496 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac X 134994496 134994496 C G SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known missense c.2538 p.F846L 0.818 NULL NULL - no_errors SAGE1 HGNC SEC22B 9554 genome.wustl.edu 37 1 145116147 145116148 + RNA INS - - A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 145116147 145116148 - A INS SEC22B ENST00000453618 human ensembl 70_37 +1 known rna NULL NULL 0.382:0.029 - - - no_errors SEC22B HGNC SNAPC4 6621 genome.wustl.edu 37 9 139272788 139272788 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 9 139272788 139272788 G A SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known missense c.3491 p.P1164L 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC STAR 6770 genome.wustl.edu 37 8 38003905 38003905 + Missense_Mutation SNP C C G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 8 38003905 38003905 C G SNP STAR ENST00000276449 human ensembl 70_37 -1 known missense c.367 p.E123Q 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STAR HGNC STAT1 6772 genome.wustl.edu 37 2 191841666 191841666 + Silent SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 191841666 191841666 G A SNP STAT1 ENST00000361099 human ensembl 70_37 -1 known silent c.1959 p.V653 1.000 pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC TAF15 8148 genome.wustl.edu 37 17 34169419 34169419 + Missense_Mutation SNP G G T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 17 34169419 34169419 G T SNP TAF15 ENST00000588240 human ensembl 70_37 +1 known missense c.962 p.R321I 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC TBL3 10607 genome.wustl.edu 37 16 2027624 2027624 + Missense_Mutation SNP G G C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 16 2027624 2027624 G C SNP TBL3 ENST00000568546 human ensembl 70_37 +1 known missense c.1852 p.D618H 0.696 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC TBRG1 84897 genome.wustl.edu 37 11 124496383 124496383 + Missense_Mutation SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 11 124496383 124496383 T C SNP TBRG1 ENST00000441174 human ensembl 70_37 +1 known missense c.469 p.C157R 1.000 NULL pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC TEKT5 146279 genome.wustl.edu 37 16 10721427 10721427 + RNA SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 16 10721427 10721427 G A SNP TEKT5 ENST00000574923 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TEKT5 HGNC TG 7038 genome.wustl.edu 37 8 133885442 133885442 + Missense_Mutation SNP T T C TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 8 133885442 133885442 T C SNP TG ENST00000220616 human ensembl 70_37 +1 known missense c.614 p.F205S 0.414 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC TMEM175 84286 genome.wustl.edu 37 4 947120 947120 + Missense_Mutation SNP T T G TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 4 947120 947120 T G SNP TMEM175 ENST00000264771 human ensembl 70_37 +1 known missense c.605 p.F202C 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC TRPM2 7226 genome.wustl.edu 37 21 45826479 45826479 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 21 45826479 45826479 G A SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known missense c.2793 p.M931I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC TSHZ2 128553 genome.wustl.edu 37 20 51870650 51870650 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 20 51870650 51870650 G A SNP TSHZ2 ENST00000371497 human ensembl 70_37 +1 known missense c.653 p.R218Q 0.998 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC TTF2 8458 genome.wustl.edu 37 1 117617918 117617918 + Missense_Mutation SNP G G A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 117617918 117617918 G A SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known missense c.712 p.E238K 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC TTN-AS1 100506866 genome.wustl.edu 37 2 179463400 179463400 + RNA SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 2 179463400 179463400 C T SNP TTN-AS1 ENST00000419746 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC XKR4 114786 genome.wustl.edu 37 8 56436066 56436066 + Silent SNP C C A TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 8 56436066 56436066 C A SNP XKR4 ENST00000327381 human ensembl 70_37 +1 known silent c.1233 p.I411 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ZC3H11A 9877 genome.wustl.edu 37 1 203798606 203798606 + Missense_Mutation SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 1 203798606 203798606 C T SNP ZC3H11A ENST00000332127 human ensembl 70_37 +1 known missense c.326 p.P109L 0.995 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ZNF767 79970 genome.wustl.edu 37 7 149318527 149318527 + RNA SNP C C T TCGA-JX-A3Q8-01A-11D-A21Q-09 TCGA-JX-A3Q8-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8492e084-f9e1-4bad-9143-ab05dca4dc2d 4fe4de09-aaf1-4b8b-8708-e41c19c23cac 7 149318527 149318527 C T SNP ZNF767 ENST00000463567 human ensembl 70_37 -1 known rna NULL NULL 0.899 - - - no_errors ZNF767 HGNC