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 ABCC8 0 genome.wustl.edu 37 11 17434248 17434248 + Nonsense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 17434248 17434248 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known nonsense c.2524 p.R842* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 tier1 - - 20 0 0.00 18 10 35.71 ABCG4 0 genome.wustl.edu 37 11 119025273 119025273 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 119025273 119025273 G A SNP ABCG4 ENST00000307417 human ensembl 74_37 +1 known silent c.528 p.V176 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 40 0 0.00 24 3 11.11 ADAMTS12 0 genome.wustl.edu 37 5 33637836 33637836 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 33637836 33637836 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known silent c.1734 p.G578 0.903 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 81 0 0.00 102 12 10.53 ADAMTS19 0 genome.wustl.edu 37 5 129019948 129019948 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 129019948 129019948 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2782 p.D928N 0.994 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 27 0 0.00 31 4 11.43 ADAMTS19 0 genome.wustl.edu 37 5 128983525 128983525 + Missense_Mutation SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 128983525 128983525 T A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.1922 p.L641Q 0.001 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 37 0 0.00 28 4 12.50 AGO4 0 genome.wustl.edu 37 1 36316572 36316572 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 36316572 36316572 G T SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.2395 p.V799F 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 tier1 - - 47 0 0.00 74 4 5.13 AHCTF1 0 genome.wustl.edu 37 1 247003024 247003024 + RNA SNP A A T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 247003024 247003024 A T SNP AHCTF1 ENST00000470300 human ensembl 74_37 -1 known rna NULL NULL 0.971 - - - no_errors AHCTF1 HGNC ENSG00000153207 tier1 - - 48 0 0.00 36 4 10.00 AJUBA 0 genome.wustl.edu 37 14 23450684 23450685 + Frame_Shift_Del DEL CA CA - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 23450684 23450685 CA - DEL AJUBA ENST00000262713 human ensembl 74_37 -1 known frame_shift_del c.792_791 p.V264fs 1.000:1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors AJUBA HGNC ENSG00000129474 tier1 21 0 0.00 13 8 38.10 ALDH2 0 genome.wustl.edu 37 12 112221026 112221026 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 112221026 112221026 G A SNP ALDH2 ENST00000261733 human ensembl 74_37 +1 known missense c.284 p.R95H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 37 0 0.00 45 3 6.25 ALKBH3 0 genome.wustl.edu 37 11 43904227 43904227 + Nonsense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 43904227 43904227 C T SNP ALKBH3 ENST00000302708 human ensembl 74_37 +1 known nonsense c.25 p.R9* 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 tier1 - - 24 0 0.00 38 7 15.22 ALLC 0 genome.wustl.edu 37 2 3743330 3743330 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 3743330 3743330 G T SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.535 p.V179L 0.870 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 tier1 - - 52 0 0.00 35 7 16.67 AMBN 0 genome.wustl.edu 37 4 71467351 71467351 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 71467351 71467351 G A SNP AMBN ENST00000322937 human ensembl 74_37 +1 known missense c.511 p.D171N 0.148 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 tier1 - - 35 0 0.00 59 8 11.94 ANKRD55 0 genome.wustl.edu 37 5 55422898 55422898 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 55422898 55422898 G A SNP ANKRD55 ENST00000341048 human ensembl 74_37 -1 known silent c.648 p.S216 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 tier1 - - 40 0 0.00 40 4 8.89 ANKRD62 0 genome.wustl.edu 37 18 12125725 12125725 + Silent SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 18 12125725 12125725 C G SNP ANKRD62 ENST00000314074 human ensembl 74_37 +1 known silent c.1863 p.L621 0.432 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 tier1 - - 55 0 0.00 43 20 31.75 ANKS1A 0 genome.wustl.edu 37 6 34952981 34952981 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 34952981 34952981 G T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.1135 p.G379W 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 26 0 0.00 29 2 6.45 ANXA5 0 genome.wustl.edu 37 4 122599640 122599640 + Nonsense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 122599640 122599640 G C SNP ANXA5 ENST00000296511 human ensembl 74_37 -1 known nonsense c.404 p.S135* 0.918 pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinIV pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 tier1 - - 31 0 0.00 19 6 24.00 ARRDC5 0 genome.wustl.edu 37 19 4891301 4891301 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 4891301 4891301 G T SNP ARRDC5 ENST00000381781 human ensembl 74_37 -1 known missense c.786 p.F262L 0.697 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 38 0 0.00 32 2 5.88 ASAP2 0 genome.wustl.edu 37 2 9528534 9528534 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 9528534 9528534 G T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known nonsense c.2242 p.E748* 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 tier1 - - 86 0 0.00 106 6 5.36 ATF7IP 0 genome.wustl.edu 37 12 14610171 14610171 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 14610171 14610171 G T SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.2100 p.E700D 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 tier1 - - 64 0 0.00 75 4 5.06 ATP13A2 0 genome.wustl.edu 37 1 17314657 17314657 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 17314657 17314657 G C SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.2835 p.F945L 1.000 tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 27 0 0.00 38 3 7.32 ATP2B3 0 genome.wustl.edu 37 X 152815520 152815520 + Silent SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 152815520 152815520 C A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.1599 p.G533 0.261 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 93 0 0.00 61 4 6.15 ATP2B4 0 genome.wustl.edu 37 1 203652486 203652486 + Silent SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 203652486 203652486 A G SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.153 p.V51 0.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 47 0 0.00 33 2 5.56 ATP6V1D 0 genome.wustl.edu 37 14 67814144 67814144 + Missense_Mutation SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 67814144 67814144 A G SNP ATP6V1D ENST00000216442 human ensembl 74_37 -1 known missense c.334 p.Y112H 1.000 pfam_V_ATPase_D,tigrfam_V_ATPase_D pfam_V_ATPase_D,tigrfam_V_ATPase_D - no_errors ATP6V1D HGNC ENSG00000100554 tier1 - - 66 0 0.00 82 5 5.75 ATP8A2 0 genome.wustl.edu 37 13 26343293 26343293 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 13 26343293 26343293 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.2494 p.A832T 1.000 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 tier1 - - 30 0 0.00 38 4 9.52 ATXN2 0 genome.wustl.edu 37 12 111958776 111958776 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 111958776 111958776 G C SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.1178 p.S393C 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 tier1 - - 40 0 0.00 38 13 25.49 B3GNT7 0 genome.wustl.edu 37 2 232262814 232262814 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 232262814 232262814 G C SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known missense c.384 p.E128D 1.000 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 tier1 - - 42 0 0.00 34 5 12.82 BCAS3 0 genome.wustl.edu 37 17 59067470 59067470 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 59067470 59067470 C T SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.1360 p.R454C 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 38 0 0.00 50 5 9.09 BMP6 0 genome.wustl.edu 37 6 7880445 7880445 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 7880445 7880445 G C SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.1411 p.E471Q 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 tier1 - - 68 0 0.00 40 15 27.27 BTN2A3P 0 genome.wustl.edu 37 6 26423187 26423187 + RNA SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 26423187 26423187 G A SNP BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors BTN2A3P HGNC ENSG00000124549 tier1 - - 100 0 0.00 88 16 15.38 BUB1 0 genome.wustl.edu 37 2 111427127 111427127 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 111427127 111427127 C G SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.470 p.R157T 0.672 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 tier1 - - 33 0 0.00 42 4 8.70 C11orf30 0 genome.wustl.edu 37 11 76237670 76237670 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 76237670 76237670 G A SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known silent c.1986 p.G662 0.994 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 21 0 0.00 27 3 10.00 C14orf182 0 genome.wustl.edu 37 14 50470433 50470433 + RNA SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 50470433 50470433 G A SNP C14orf182 ENST00000529902 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C14orf182 HGNC ENSG00000214900 tier1 - - 55 0 0.00 55 15 21.43 C14orf80 0 genome.wustl.edu 37 14 105962375 105962375 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 105962375 105962375 G T SNP C14orf80 ENST00000392523 human ensembl 74_37 +1 known missense c.843 p.L281F 0.002 NULL NULL - no_errors C14orf80 HGNC ENSG00000185347 tier1 - - 52 0 0.00 41 4 8.89 C19orf12 0 genome.wustl.edu 37 19 30193476 30193476 + RNA SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 30193476 30193476 C G SNP C19orf12 ENST00000392275 human ensembl 74_37 -1 known rna NULL NULL 0.104 - - - no_errors C19orf12 HGNC ENSG00000131943 tier1 - - 14 0 0.00 16 11 40.74 C1QC 0 genome.wustl.edu 37 1 22973906 22973906 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 22973906 22973906 C T SNP C1QC ENST00000374637 human ensembl 74_37 +1 known missense c.368 p.T123M 0.982 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 33 0 0.00 38 3 7.32 C20orf166 0 genome.wustl.edu 37 20 61167762 61167762 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 20 61167762 61167762 C T SNP C20orf166 ENST00000370527 human ensembl 74_37 +1 known missense c.232 p.P78S 0.000 NULL NULL - no_errors C20orf166 HGNC ENSG00000174407 45 0 0.00 55 3 5.17 C2CD2 0 genome.wustl.edu 37 21 43339044 43339044 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 21 43339044 43339044 C G SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known missense c.518 p.R173T 0.168 NULL pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 tier1 - - 41 0 0.00 52 10 16.13 C3orf30 0 genome.wustl.edu 37 3 118865478 118865478 + Nonsense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 118865478 118865478 C T SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known nonsense c.442 p.R148* 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 tier1 - - 25 0 0.00 26 6 18.75 C4orf36 0 genome.wustl.edu 37 4 87809349 87809349 + Nonsense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 87809349 87809349 C A SNP C4orf36 ENST00000295898 human ensembl 74_37 -1 known nonsense c.145 p.E49* 1.000 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 tier1 - - 39 0 0.00 41 14 25.45 C6orf222 0 genome.wustl.edu 37 6 36291264 36291264 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 36291264 36291264 G A SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known missense c.1277 p.P426L 0.000 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 tier1 - - 68 0 0.00 52 8 13.33 CACNA1C 0 genome.wustl.edu 37 12 2787022 2787022 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 2787022 2787022 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.5080 p.D1694N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 41 0 0.00 54 7 11.48 CACNG8 0 genome.wustl.edu 37 19 54485522 54485522 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 54485522 54485522 G C SNP CACNG8 ENST00000270458 human ensembl 74_37 +1 known missense c.697 p.E233Q 1.000 prints_VDCC_g8su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 tier1 - - 61 0 0.00 58 15 20.55 CACYBP 0 genome.wustl.edu 37 1 174979138 174979138 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 174979138 174979138 G A SNP CACYBP ENST00000367679 human ensembl 74_37 +1 known missense c.610 p.D204N 1.000 pfam_SGS,pfscan_SGS pfam_Siah-Interact_N,pfam_CS_dom,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_SGS - no_errors CACYBP HGNC ENSG00000116161 tier1 - - 47 0 0.00 37 8 17.78 CARS 0 genome.wustl.edu 37 11 3028157 3028157 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 3028157 3028157 G A SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.2101 p.R701W 1.000 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 tier1 - - 22 0 0.00 13 3 18.75 CBX8 0 genome.wustl.edu 37 17 77770322 77770322 + Silent SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 77770322 77770322 G C SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known silent c.87 p.L29 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 tier1 - - 40 0 0.00 34 4 10.53 CCDC151 0 genome.wustl.edu 37 19 11537020 11537020 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 11537020 11537020 C G SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.907 p.E303Q 0.415 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 tier1 - - 69 0 0.00 47 8 14.55 CCDC37 0 genome.wustl.edu 37 3 126139001 126139001 + Silent SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 126139001 126139001 G C SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known silent c.1014 p.R338 0.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 tier1 - - 57 0 0.00 60 19 24.05 CCDC91 0 genome.wustl.edu 37 12 28515424 28515424 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 28515424 28515424 C T SNP CCDC91 ENST00000381259 human ensembl 74_37 +1 known silent c.630 p.L210 0.995 NULL NULL - no_errors CCDC91 HGNC ENSG00000123106 tier1 - - 23 0 0.00 37 13 26.00 CCNJL 0 genome.wustl.edu 37 5 159766534 159766534 + RNA SNP A A T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 159766534 159766534 A T SNP CCNJL ENST00000377503 human ensembl 74_37 -1 known rna NULL NULL 0.479 - - - no_errors CCNJL HGNC ENSG00000135083 tier1 - - 52 0 0.00 60 4 6.25 CCT4 0 genome.wustl.edu 37 2 62099446 62099446 + Missense_Mutation SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 62099446 62099446 A G SNP CCT4 ENST00000394440 human ensembl 74_37 -1 known missense c.1262 p.L421P 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta - no_errors CCT4 HGNC ENSG00000115484 tier1 - - 43 0 0.00 32 4 11.11 CD97 0 genome.wustl.edu 37 19 14513415 14513415 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 14513415 14513415 C T SNP CD97 ENST00000242786 human ensembl 74_37 +1 known missense c.1190 p.A397V 0.001 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 tier1 - - 32 0 0.00 21 4 16.00 CDC40 0 genome.wustl.edu 37 6 110501659 110501659 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 110501659 110501659 G T SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known silent c.12 p.A4 0.784 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 tier1 - - 20 0 0.00 18 13 41.94 CDC40 0 genome.wustl.edu 37 6 110501702 110501702 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 110501702 110501702 G C SNP CDC40 ENST00000307731 human ensembl 74_37 +1 known missense c.55 p.E19Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC40 HGNC ENSG00000168438 tier1 - - 28 0 0.00 20 14 41.18 CDH10 0 genome.wustl.edu 37 5 24492981 24492981 + Missense_Mutation SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 24492981 24492981 T A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1569 p.K523N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 23 0 0.00 50 4 7.41 CDK12 0 genome.wustl.edu 37 17 37680952 37680952 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 37680952 37680952 G A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.3121 p.E1041K 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 tier1 - - 70 0 0.00 47 8 14.55 CEP95 0 genome.wustl.edu 37 17 62525459 62525459 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 62525459 62525459 C G SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known missense c.1360 p.P454A 0.998 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 tier1 - - 44 0 0.00 48 15 23.81 CFH 0 genome.wustl.edu 37 1 196706631 196706631 + Nonsense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 196706631 196706631 C T SNP CFH ENST00000367429 human ensembl 74_37 +1 known nonsense c.2623 p.Q875* 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 47 0 0.00 50 11 18.03 CFHR2 0 genome.wustl.edu 37 1 196927174 196927174 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 196927174 196927174 G A SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.584 p.G195E 0.994 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 tier1 - - 54 0 0.00 56 10 15.15 CHD7 0 genome.wustl.edu 37 8 61778006 61778006 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 61778006 61778006 G T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.8508 p.P2836 0.841 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 32 0 0.00 27 14 34.15 CLNK 0 genome.wustl.edu 37 4 10492148 10492148 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 10492148 10492148 C T SNP CLNK ENST00000226951 human ensembl 74_37 -1 known silent c.1230 p.R410 0.907 pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors CLNK HGNC ENSG00000109684 tier1 - - 65 0 0.00 43 16 27.12 CLUH 0 genome.wustl.edu 37 17 2597225 2597225 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 2597225 2597225 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.3083 p.R1028H 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 tier1 - - 105 0 0.00 99 10 9.17 CMYA5 0 genome.wustl.edu 37 5 79030935 79030935 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 79030935 79030935 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.6347 p.A2116V 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 37 0 0.00 33 4 10.81 CNTN4 0 genome.wustl.edu 37 3 3067916 3067916 + Silent SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 3067916 3067916 G C SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known silent c.1617 p.L539 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 tier1 - - 59 0 0.00 35 15 30.00 COASY 0 genome.wustl.edu 37 17 40717518 40717518 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 40717518 40717518 G A SNP COASY ENST00000590958 human ensembl 74_37 +1 known missense c.1504 p.V502M 0.403 pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors COASY HGNC ENSG00000068120 tier1 - - 30 0 0.00 40 4 9.09 COG4 0 genome.wustl.edu 37 16 70524289 70524289 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 70524289 70524289 G T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.1654 p.L552M 0.990 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 41 0 0.00 36 2 5.26 COL23A1 0 genome.wustl.edu 37 5 177733909 177733909 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 177733909 177733909 G A SNP COL23A1 ENST00000390654 human ensembl 74_37 -1 known missense c.373 p.R125W 1.000 pfam_Collagen pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 tier1 - - 62 0 0.00 48 8 14.29 CORO1B 0 genome.wustl.edu 37 11 67207948 67207948 + RNA SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 67207948 67207948 C T SNP CORO1B ENST00000539970 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors CORO1B HGNC ENSG00000172725 tier1 - - 56 0 0.00 78 7 8.24 CORO7-PAM16 0 genome.wustl.edu 37 16 4408369 4408369 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 4408369 4408369 C T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.2456 p.R819Q 1.000 pfam_DUF1900 pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 tier1 - - 50 0 0.00 41 20 32.79 CP 0 genome.wustl.edu 37 3 148917609 148917609 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 148917609 148917609 G T SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.1391 p.T464N 0.996 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 tier1 - - 45 0 0.00 44 4 8.33 CPEB3 0 genome.wustl.edu 37 10 94000046 94000046 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 94000046 94000046 C T SNP CPEB3 ENST00000265997 human ensembl 74_37 -1 known missense c.62 p.R21Q 0.457 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC ENSG00000107864 59 0 0.00 69 4 5.48 CPNE8 0 genome.wustl.edu 37 12 39047846 39047846 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 39047846 39047846 G T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.1533 p.D511E 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 36 0 0.00 20 3 13.04 CPNE8 0 genome.wustl.edu 37 12 39170060 39170060 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 39170060 39170060 C G SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.451 p.E151Q 1.000 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 193 0 0.00 169 33 16.34 CSMD3 0 genome.wustl.edu 37 8 113678558 113678558 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 113678558 113678558 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2764 p.E922K 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 74 0 0.00 89 16 15.24 CSPG4 0 genome.wustl.edu 37 15 75981846 75981846 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 75981846 75981846 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.1560 p.L520 0.991 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 193 0 0.00 129 88 40.55 CSTF2 0 genome.wustl.edu 37 X 100079173 100079173 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 100079173 100079173 G A SNP CSTF2 ENST00000415585 human ensembl 74_37 +1 known missense c.629 p.G210D 0.359 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 tier1 - - 69 0 0.00 33 20 37.74 CTNNA2 0 genome.wustl.edu 37 2 80874927 80874927 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 80874927 80874927 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2750 p.R917Q 1.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 31 0 0.00 28 5 15.15 CTNND2 0 genome.wustl.edu 37 5 11082916 11082916 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 11082916 11082916 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2680 p.L894 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 41 0 0.00 42 3 6.67 CUL3 0 genome.wustl.edu 37 2 225368421 225368421 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 225368421 225368421 G T SNP CUL3 ENST00000264414 human ensembl 74_37 -1 known missense c.1325 p.T442K 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL3 HGNC ENSG00000036257 38 0 0.00 35 3 7.89 DAP3 0 genome.wustl.edu 37 1 155698908 155698908 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 155698908 155698908 G C SNP DAP3 ENST00000343043 human ensembl 74_37 +1 known missense c.679 p.E227Q 0.997 pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 tier1 - - 44 0 0.00 47 12 20.34 DCAF16 0 genome.wustl.edu 37 4 17805730 17805730 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 17805730 17805730 G A SNP DCAF16 ENST00000382247 human ensembl 74_37 -1 known missense c.35 p.S12L 0.982 NULL NULL - no_errors DCAF16 HGNC ENSG00000163257 tier1 - - 24 0 0.00 11 5 31.25 DCHS2 0 genome.wustl.edu 37 4 155156083 155156083 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 155156083 155156083 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.8356 p.E2786K 1.000 NULL pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 25 0 0.00 10 11 52.38 DCHS2 0 genome.wustl.edu 37 4 155219049 155219049 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 155219049 155219049 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.5052 p.F1684 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 42 0 0.00 35 9 20.45 DCHS2 0 genome.wustl.edu 37 4 155254137 155254137 + Nonsense_Mutation SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 155254137 155254137 T A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known nonsense c.1726 p.K576* 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 21 0 0.00 27 7 20.59 DCHS2 0 genome.wustl.edu 37 4 155410844 155410844 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 155410844 155410844 C A SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known missense c.1664 p.G555V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 29 0 0.00 46 7 13.21 DCHS2 0 genome.wustl.edu 37 4 155411596 155411596 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 155411596 155411596 C T SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known silent c.912 p.A304 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 15 0 0.00 9 3 25.00 DCTN2 0 genome.wustl.edu 37 12 57926560 57926560 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 57926560 57926560 C A SNP DCTN2 ENST00000434715 human ensembl 74_37 -1 known missense c.823 p.A275S 1.000 NULL NULL - no_errors DCTN2 HGNC ENSG00000175203 28 0 0.00 27 2 6.90 DENND1B 0 genome.wustl.edu 37 1 197552366 197552366 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 197552366 197552366 G A SNP DENND1B ENST00000367396 human ensembl 74_37 -1 known silent c.1065 p.F355 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 tier1 - - 31 0 0.00 19 3 13.64 DICER1 0 genome.wustl.edu 37 14 95570227 95570227 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 95570227 95570227 G T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known nonsense c.3506 p.S1169* 0.018 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 tier1 - - 50 0 0.00 60 4 6.25 DIDO1 0 genome.wustl.edu 37 20 61513083 61513083 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 20 61513083 61513083 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.4225 p.E1409K 0.021 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 30 0 0.00 40 8 16.67 DNAH17 0 genome.wustl.edu 37 17 76502823 76502823 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 76502823 76502823 G T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.4770 p.S1590 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 56 0 0.00 68 4 5.56 DST 0 genome.wustl.edu 37 6 56479180 56479180 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 56479180 56479180 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.4933 p.G1645R 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 51 0 0.00 38 4 9.52 DZIP1L 0 genome.wustl.edu 37 3 137822572 137822572 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 137822572 137822572 G A SNP DZIP1L ENST00000327532 human ensembl 74_37 -1 known missense c.242 p.P81L 0.989 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 tier1 - - 51 0 0.00 45 15 25.00 EFCAB13 0 genome.wustl.edu 37 17 45447865 45447865 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 45447865 45447865 G C SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known missense c.868 p.E290Q 1.000 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 tier1 - - 58 0 0.00 44 10 18.52 EFCAB14 0 genome.wustl.edu 37 1 47154135 47154135 + Nonsense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 47154135 47154135 C A SNP EFCAB14 ENST00000371933 human ensembl 74_37 -1 known nonsense c.877 p.E293* 0.400 NULL pfscan_EF_hand_dom - no_errors EFCAB14 HGNC ENSG00000159658 54 0 0.00 72 4 5.26 EFNA3 0 genome.wustl.edu 37 1 155057657 155057657 + Silent SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 155057657 155057657 C G SNP EFNA3 ENST00000368408 human ensembl 74_37 +1 known silent c.219 p.P73 0.969 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA3 HGNC ENSG00000143590 23 0 0.00 24 8 25.00 EML5 0 genome.wustl.edu 37 14 89171240 89171240 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 89171240 89171240 G T SNP EML5 ENST00000554922 human ensembl 74_37 -1 known missense c.2015 p.A672D 1.000 pfam_HELP pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 34 0 0.00 34 4 10.53 ENO4 0 genome.wustl.edu 37 10 118633653 118633653 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 118633653 118633653 G T SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known missense c.1291 p.V431L 0.999 pfam_Enolase_C pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 - - 69 0 0.00 64 4 5.88 ENSG00000222070 0 genome.wustl.edu 37 2 25945154 25945154 + RNA DEL T T - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 25945154 25945154 T - DEL ENSG00000222070 ENST00000410138 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC010150.2 Clone_based_ensembl_gene ENSG00000222070 tier1 28 0 0.00 30 2 6.25 ENSG00000243696 0 genome.wustl.edu 37 3 52864530 52864530 + RNA SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 52864530 52864530 C T SNP ENSG00000243696 ENST00000513520 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-966M1.6 Clone_based_vega_gene ENSG00000243696 tier1 - - 65 0 0.00 21 15 41.67 ENSG00000244306 0 genome.wustl.edu 37 14 19855220 19855220 + RNA SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 19855220 19855220 C T SNP ENSG00000244306 ENST00000551334 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2314B22.3 Clone_based_vega_gene ENSG00000244306 tier1 - - 8 0 0.00 4 15 78.95 ENSG00000255641 0 genome.wustl.edu 37 12 10588462 10588462 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 10588462 10588462 C G SNP ENSG00000255641 ENST00000539033 human ensembl 74_37 -1 known missense c.124 p.E42Q 0.000 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors NKG2-E Uniprot_gn ENSG00000255641 tier1 - - 113 0 0.00 137 16 10.46 ENSG00000256928 0 genome.wustl.edu 37 11 73107274 73107274 + RNA SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 73107274 73107274 G T SNP ENSG00000256928 ENST00000544674 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-809N8.2 Clone_based_vega_gene ENSG00000256928 tier1 - - 33 0 0.00 5 13 72.22 ENSG00000264819 0 genome.wustl.edu 37 X 1410990 1410990 + RNA SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 1410990 1410990 C T SNP ENSG00000264819 ENST00000580687 human ensembl 74_37 +1 novel rna NULL NULL 0.737 - - - no_errors BX649553.4 Clone_based_ensembl_gene ENSG00000264819 tier1 - - 96 0 0.00 78 10 11.36 ENSG00000268241 0 genome.wustl.edu 37 2 175200929 175200929 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 175200929 175200929 C G SNP ENSG00000268241 ENST00000595354 human ensembl 74_37 -1 known missense c.1223 p.R408P 1.000 NULL NULL - no_errors AC018470.1 Clone_based_ensembl_gene ENSG00000268241 10 0 0.00 8 3 27.27 EP400 0 genome.wustl.edu 37 12 132547096 132547096 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 132547096 132547096 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8292 p.Q2764 0.957 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 tier1 rs74479394 - 37 0 0.00 55 6 9.84 EPG5 0 genome.wustl.edu 37 18 43496415 43496415 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 18 43496415 43496415 G A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known silent c.3372 p.N1124 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 39 0 0.00 38 2 5.00 ERN2 0 genome.wustl.edu 37 16 23718123 23718123 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 23718123 23718123 G T SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.583 p.L195M 0.959 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 42 0 0.00 66 4 5.71 ESX1 0 genome.wustl.edu 37 X 103495090 103495090 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 103495090 103495090 G C SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known missense c.1040 p.P347R 0.116 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 17 0 0.00 37 6 13.95 EVC2 0 genome.wustl.edu 37 4 5642402 5642402 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 5642402 5642402 G T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.1309 p.L437I 0.548 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 42 0 0.00 36 2 5.26 F11 0 genome.wustl.edu 37 4 187208943 187208943 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 187208943 187208943 C T SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.1682 p.A561V 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 tier1 - - 45 0 0.00 68 5 6.85 FAM104A 0 genome.wustl.edu 37 17 71205859 71205861 + In_Frame_Del DEL TGC TGC - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 71205859 71205861 TGC - DEL FAM104A ENST00000405159 human ensembl 74_37 -1 known in_frame_del c.433_431 p.S144in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors FAM104A HGNC ENSG00000133193 tier1 51 0 0.00 31 4 11.43 FAM129A 0 genome.wustl.edu 37 1 184792837 184792837 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 184792837 184792837 G C SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.757 p.L253V 0.999 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 tier1 - - 32 0 0.00 39 9 18.75 FAM155A 0 genome.wustl.edu 37 13 108518473 108518473 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 13 108518473 108518473 G C SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.472 p.L158V 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 tier1 - - 38 0 0.00 36 16 30.77 FAM196B 0 genome.wustl.edu 37 5 169310792 169310792 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 169310792 169310792 C T SNP FAM196B ENST00000377365 human ensembl 74_37 -1 known silent c.111 p.V37 0.906 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 tier1 - - 29 0 0.00 39 9 18.75 FAM49A 0 genome.wustl.edu 37 2 16769367 16769367 + Silent SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 16769367 16769367 G C SNP FAM49A ENST00000355549 human ensembl 74_37 -1 known silent c.21 p.V7 1.000 NULL pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 tier1 - - 66 0 0.00 59 8 11.94 FAM83G 0 genome.wustl.edu 37 17 18907093 18907093 + Nonsense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 18907093 18907093 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known nonsense c.262 p.Q88* 0.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 tier1 - - 54 0 0.00 57 16 21.92 FANCD2OS 0 genome.wustl.edu 37 3 10146306 10146306 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 10146306 10146306 G T SNP FANCD2OS ENST00000450660 human ensembl 74_37 -1 known nonsense c.153 p.C51* 1.000 NULL NULL - no_errors FANCD2OS HGNC ENSG00000163705 tier1 - - 32 0 0.00 47 4 7.84 FAT4 0 genome.wustl.edu 37 4 126242132 126242132 + Silent SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 126242132 126242132 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.4566 p.L1522 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 - - 18 0 0.00 17 4 19.05 FBXL7 0 genome.wustl.edu 37 5 15937134 15937134 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 15937134 15937134 G T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known nonsense c.1315 p.E439* 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 17 0 0.00 51 3 5.56 FCRLB 0 genome.wustl.edu 37 1 161693354 161693354 + Nonsense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 161693354 161693354 C T SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known nonsense c.250 p.R84* 1.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 35 0 0.00 38 2 5.00 FLII 0 genome.wustl.edu 37 17 18150102 18150102 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 18150102 18150102 C G SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.2857 p.E953Q 0.062 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 tier1 - - 23 0 0.00 28 5 15.15 FLT3 0 genome.wustl.edu 37 13 28626732 28626732 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 13 28626732 28626732 G A SNP FLT3 ENST00000380982 human ensembl 74_37 -1 known silent c.564 p.S188 0.059 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FLT3 HGNC ENSG00000122025 tier1 - - 49 0 0.00 31 25 44.64 FOXK1 0 genome.wustl.edu 37 7 4800867 4800867 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 4800867 4800867 C T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known silent c.1869 p.T623 0.177 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 tier1 - - 93 0 0.00 105 16 13.22 FPR2 0 genome.wustl.edu 37 19 52272700 52272700 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 52272700 52272700 G T SNP FPR2 ENST00000340023 human ensembl 74_37 +1 known silent c.789 p.L263 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt - no_errors FPR2 HGNC ENSG00000171049 tier1 - - 41 0 0.00 67 17 20.24 FUS 0 genome.wustl.edu 37 16 31201647 31201647 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 31201647 31201647 G T SNP FUS ENST00000254108 human ensembl 74_37 +1 known missense c.1220 p.R407L 0.519 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 tier1 - - 41 0 0.00 52 4 7.14 FZD9 0 genome.wustl.edu 37 7 72849459 72849459 + Silent SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 72849459 72849459 G C SNP FZD9 ENST00000344575 human ensembl 74_37 +1 known silent c.1122 p.L374 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD9 HGNC ENSG00000188763 tier1 - - 23 0 0.00 31 14 31.11 GABRB3 0 genome.wustl.edu 37 15 27018791 27018791 + Splice_Site SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 27018791 27018791 C T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known splice_site c.80+1 e1+1 0.984 - - - no_errors GABRB3 HGNC ENSG00000166206 10 0 0.00 15 5 25.00 GATA6 0 genome.wustl.edu 37 18 19762733 19762733 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 18 19762733 19762733 G T SNP GATA6 ENST00000269216 human ensembl 74_37 +1 known missense c.1444 p.A482S 1.000 smart_Znf_GATA,pfscan_Znf_GATA pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA6 HGNC ENSG00000141448 tier1 - - 85 0 0.00 63 5 7.35 GC 0 genome.wustl.edu 37 4 72607471 72607471 + RNA SNP T T G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 72607471 72607471 T G SNP GC ENST00000503364 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GC HGNC ENSG00000145321 tier1 - - 33 0 0.00 30 12 28.57 GGNBP1 0 genome.wustl.edu 37 6 33556733 33556733 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 33556733 33556733 C T SNP GGNBP1 ENST00000374458 human ensembl 74_37 +1 known missense c.260 p.S87L 0.000 NULL NULL - no_errors GGNBP1 HGNC ENSG00000204188 32 0 0.00 46 4 8.00 GIGYF1 0 genome.wustl.edu 37 7 100283635 100283637 + In_Frame_Del DEL TCC TCC - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 100283635 100283637 TCC - DEL GIGYF1 ENST00000275732 human ensembl 74_37 -1 known in_frame_del c.1016_1014 p.E339in_frame_del 0.962:1.000:0.999 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 tier1 20 0 0.00 21 2 8.70 GINS1 0 genome.wustl.edu 37 20 25394423 25394423 + RNA SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 20 25394423 25394423 T A SNP GINS1 ENST00000473460 human ensembl 74_37 +1 known rna NULL NULL 0.697 - - - no_errors GINS1 HGNC ENSG00000101003 tier1 - - 31 0 0.00 44 4 8.33 GLI2 0 genome.wustl.edu 37 2 121746894 121746894 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 121746894 121746894 C G SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.3404 p.S1135C 0.057 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 tier1 - - 40 0 0.00 45 7 13.46 GNAS 0 genome.wustl.edu 37 20 57485067 57485067 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 20 57485067 57485067 G T SNP GNAS ENST00000354359 human ensembl 74_37 +1 known missense c.904 p.V302F 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 38 0 0.00 45 7 13.46 GNB2 0 genome.wustl.edu 37 7 100276334 100276334 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 100276334 100276334 C T SNP GNB2 ENST00000303210 human ensembl 74_37 +1 known silent c.933 p.H311 0.296 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC ENSG00000172354 tier1 - - 37 0 0.00 40 30 42.86 GOLGA3 0 genome.wustl.edu 37 12 133365747 133365747 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 133365747 133365747 C G SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.2677 p.E893Q 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 30 0 0.00 27 6 18.18 GOLGA3 0 genome.wustl.edu 37 12 133365805 133365805 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 133365805 133365805 C A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.2619 p.R873S 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 43 0 0.00 27 7 20.59 GOLGA6L2 0 genome.wustl.edu 37 15 23685739 23685739 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 23685739 23685739 C G SNP GOLGA6L2 ENST00000567107 human ensembl 74_37 -1 putative missense c.1883 p.R628T 0.012 NULL NULL - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 - - 239 0 0.00 218 46 17.42 GOLGA8T 0 genome.wustl.edu 37 15 30437044 30437044 + Silent SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 30437044 30437044 C G SNP GOLGA8T ENST00000569052 human ensembl 74_37 +1 novel silent c.1431 p.L477 0.990 NULL NULL - no_errors GOLGA8T HGNC ENSG00000261247 tier1 - - 57 0 0.00 49 15 23.44 GPHN 0 genome.wustl.edu 37 14 67291233 67291233 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 67291233 67291233 G C SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.243 p.L81F 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 tier1 - - 32 0 0.00 43 11 20.37 GPR32 0 genome.wustl.edu 37 19 51273966 51273966 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 51273966 51273966 G C SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.109 p.E37Q 0.003 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 - - 64 0 0.00 91 7 7.14 GRIK2 0 genome.wustl.edu 37 6 102250255 102250255 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 102250255 102250255 G T SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.1145 p.G382V 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 - - 56 0 0.00 49 7 12.50 HAL 0 genome.wustl.edu 37 12 96380981 96380981 + Silent SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 96380981 96380981 G C SNP HAL ENST00000261208 human ensembl 74_37 -1 known silent c.915 p.L305 1.000 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 tier1 - - 31 0 0.00 29 7 19.44 HDX 0 genome.wustl.edu 37 X 83599383 83599383 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 83599383 83599383 G T SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.1535 p.S512Y 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 tier1 - - 75 0 0.00 43 10 18.87 HEATR1 0 genome.wustl.edu 37 1 236717912 236717912 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 236717912 236717912 G T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.6064 p.P2022T 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 tier1 - - 46 0 0.00 41 4 8.89 HEATR5B 0 genome.wustl.edu 37 2 37268374 37268374 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 37268374 37268374 G T SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.2758 p.H920N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 50 0 0.00 69 4 5.48 HEPACAM2 0 genome.wustl.edu 37 7 92848665 92848665 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 92848665 92848665 G T SNP HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known missense c.179 p.P60Q 0.004 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 tier1 - - 49 0 0.00 65 4 5.80 HERC2 0 genome.wustl.edu 37 15 28501404 28501404 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 28501404 28501404 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.2577 p.S859 0.911 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 84 0 0.00 117 15 11.36 HFE 0 genome.wustl.edu 37 6 26092860 26092860 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 26092860 26092860 C T SNP HFE ENST00000470149 human ensembl 74_37 +1 known missense c.640 p.P214S 0.000 pfam_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HFE HGNC ENSG00000010704 tier1 - - 38 0 0.00 34 13 27.66 HGSNAT 0 genome.wustl.edu 37 8 43037398 43037398 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 43037398 43037398 G T SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known missense c.1207 p.A403S 0.000 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 tier1 - - 69 0 0.00 72 4 5.26 HIST1H1B 0 genome.wustl.edu 37 6 27834849 27834849 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 27834849 27834849 C A SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.459 p.K153N 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 tier1 - - 40 0 0.00 26 18 40.91 HIST1H2BB 0 genome.wustl.edu 37 6 26043872 26043872 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 26043872 26043872 G T SNP HIST1H2BB ENST00000357905 human ensembl 74_37 -1 known missense c.14 p.S5Y 0.590 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 tier1 - - 42 0 0.00 45 12 21.05 HIST1H3E 0 genome.wustl.edu 37 6 26225496 26225496 + Frame_Shift_Del DEL G G - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 26225496 26225496 G - DEL HIST1H3E ENST00000360408 human ensembl 74_37 +1 known frame_shift_del c.114 p.K38fs 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 tier1 94 0 0.00 67 10 12.99 HMGN4 0 genome.wustl.edu 37 6 26545537 26545537 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 26545537 26545537 C T SNP HMGN4 ENST00000377575 human ensembl 74_37 +1 known missense c.103 p.P35S 0.989 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN4 HGNC ENSG00000182952 tier1 rs146576097 - 34 0 0.00 29 5 14.71 HNRNPA0 0 genome.wustl.edu 37 5 137088929 137088931 + In_Frame_Del DEL CCG CCG - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 137088929 137088931 CCG - DEL HNRNPA0 ENST00000314940 human ensembl 74_37 -1 known in_frame_del c.827_825 p.G278in_frame_del 0.372:0.361:0.351 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA0 HGNC ENSG00000177733 tier1 25 0 0.00 20 2 9.09 HOXA-AS3 0 genome.wustl.edu 37 7 27192510 27192510 + RNA SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 27192510 27192510 G A SNP HOXA-AS3 ENST00000518947 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HOXA-AS3 HGNC ENSG00000254369 tier1 - - 158 0 0.00 145 28 16.18 HS6ST1 0 genome.wustl.edu 37 2 129026040 129026040 + Missense_Mutation SNP T T C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 129026040 129026040 T C SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known missense c.932 p.K311R 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 - - 69 0 0.00 37 12 24.49 IARS2 0 genome.wustl.edu 37 1 220279397 220279397 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 220279397 220279397 C T SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.1231 p.P411S 0.930 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 25 0 0.00 35 2 5.41 IFIH1 0 genome.wustl.edu 37 2 163133265 163133265 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 163133265 163133265 C T SNP IFIH1 ENST00000263642 human ensembl 74_37 -1 known missense c.2236 p.E746K 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 tier1 - - 66 0 0.00 49 21 30.00 ILF3 0 genome.wustl.edu 37 19 10789847 10789847 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 10789847 10789847 C T SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known silent c.726 p.T242 1.000 pfam_DZF,smart_DZF pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 tier1 - - 44 0 0.00 27 4 12.90 ILK 0 genome.wustl.edu 37 11 6631827 6631827 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 6631827 6631827 G C SNP ILK ENST00000299421 human ensembl 74_37 +1 known missense c.1344 p.K448N 1.000 superfamily_Kinase-like_dom,pirsf_Integrin-linked_kinase pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 tier1 - - 40 0 0.00 25 13 34.21 IMPG1 0 genome.wustl.edu 37 6 76751789 76751789 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 76751789 76751789 C T SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.122 p.R41K 0.915 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 48 0 0.00 51 11 17.74 IQGAP3 0 genome.wustl.edu 37 1 156509318 156509318 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 156509318 156509318 G C SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.2904 p.I968M 1.000 superfamily_Rho_GTPase_activation_prot pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 26 0 0.00 46 3 6.12 ISL2 0 genome.wustl.edu 37 15 76629258 76629258 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 76629258 76629258 G T SNP ISL2 ENST00000290759 human ensembl 74_37 +1 known missense c.34 p.G12C 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL2 HGNC ENSG00000159556 29 0 0.00 24 2 7.41 KCNC1 0 genome.wustl.edu 37 11 17794164 17794164 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 17794164 17794164 G A SNP KCNC1 ENST00000379472 human ensembl 74_37 +1 known missense c.1523 p.G508D 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 51 0 0.00 54 3 5.26 KCNMB3 0 genome.wustl.edu 37 3 178960754 178960754 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 178960754 178960754 C G SNP KCNMB3 ENST00000314235 human ensembl 74_37 -1 known missense c.778 p.E260Q 0.000 NULL pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB3 HGNC ENSG00000171121 tier1 - - 66 0 0.00 62 20 24.39 KDM1B 0 genome.wustl.edu 37 6 18160169 18160169 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 18160169 18160169 G T SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.43 p.D15Y 1.000 NULL pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 tier1 - - 42 0 0.00 37 4 9.76 KDM2A 0 genome.wustl.edu 37 11 67023822 67023823 + RNA INS - - A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 67023822 67023823 - A INS KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 23 0 0.00 28 4 12.50 KIAA0195 0 genome.wustl.edu 37 17 73491440 73491440 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 73491440 73491440 C A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.2804 p.T935K 0.998 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 tier1 - - 43 0 0.00 60 4 6.25 KIAA0319L 0 genome.wustl.edu 37 1 35919200 35919200 + Nonsense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 35919200 35919200 G C SNP KIAA0319L ENST00000325722 human ensembl 74_37 -1 known nonsense c.1871 p.S624* 0.960 superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 tier1 - - 49 0 0.00 48 13 21.31 KIAA0391 0 genome.wustl.edu 37 14 35596726 35596726 + Missense_Mutation SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 35596726 35596726 A G SNP KIAA0391 ENST00000534898 human ensembl 74_37 +1 known missense c.1076 p.Q359R 0.806 NULL NULL - no_errors KIAA0391 HGNC ENSG00000100890 tier1 - - 69 0 0.00 88 5 5.38 KIAA1598 0 genome.wustl.edu 37 10 118671344 118671344 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 118671344 118671344 G T SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known nonsense c.1316 p.S439* 0.918 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 32 0 0.00 34 2 5.56 KIAA2018 0 genome.wustl.edu 37 3 113377482 113377482 + Frame_Shift_Del DEL T T - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 113377482 113377482 T - DEL KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_del c.3047 p.N1016fs 0.827 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 27 0 0.00 27 3 10.00 KIF20B 0 genome.wustl.edu 37 10 91478507 91478507 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 91478507 91478507 C T SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.1312 p.H438Y 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 KIF20B HGNC ENSG00000138182 tier1 - - 61 0 0.00 49 16 24.62 KIFC3 0 genome.wustl.edu 37 16 57799613 57799613 + RNA SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 57799613 57799613 G T SNP KIFC3 ENST00000563266 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors KIFC3 HGNC ENSG00000140859 tier1 - - 28 0 0.00 32 5 13.51 KIRREL 0 genome.wustl.edu 37 1 158063162 158063162 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 158063162 158063162 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1553 p.T518I 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 40 0 0.00 31 4 11.11 KMT2C 0 genome.wustl.edu 37 7 151873959 151873959 + Nonsense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 151873959 151873959 G C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known nonsense c.8579 p.S2860* 0.002 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 19 0 0.00 27 17 38.64 KPRP 0 genome.wustl.edu 37 1 152732307 152732307 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 152732307 152732307 G A SNP KPRP ENST00000368773 human ensembl 74_37 +1 known silent c.243 p.V81 0.000 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 29 0 0.00 40 8 16.67 KRI1 0 genome.wustl.edu 37 19 10671094 10671094 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 10671094 10671094 C G SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.712 p.E238Q 0.577 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 tier1 - - 33 0 0.00 26 4 13.33 KRTAP10-11 0 genome.wustl.edu 37 21 46066408 46066408 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 21 46066408 46066408 C A SNP KRTAP10-11 ENST00000334670 human ensembl 74_37 +1 known missense c.33 p.S11R 0.212 NULL NULL - no_errors KRTAP10-11 HGNC ENSG00000243489 tier1 - - 162 0 0.00 119 7 5.56 L3MBTL2 0 genome.wustl.edu 37 22 41623140 41623140 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 22 41623140 41623140 G T SNP L3MBTL2 ENST00000216237 human ensembl 74_37 +1 known silent c.1635 p.V545 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 61 0 0.00 62 4 6.06 LAMTOR5-AS1 0 genome.wustl.edu 37 1 110950516 110950516 + RNA SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 110950516 110950516 C T SNP LAMTOR5-AS1 ENST00000457535 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LAMTOR5-AS1 HGNC ENSG00000224699 tier1 - - 27 0 0.00 25 5 16.67 LINC00085 0 genome.wustl.edu 37 19 52196977 52196977 + RNA SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 52196977 52196977 C G SNP LINC00085 ENST00000573266 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00085 HGNC ENSG00000182310 tier1 - - 11 0 0.00 12 5 29.41 LINC00303 0 genome.wustl.edu 37 1 204010308 204010308 + RNA SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 204010308 204010308 G A SNP LINC00303 ENST00000367207 human ensembl 74_37 -1 known rna NULL NULL 0.592 - - - no_errors LINC00303 HGNC ENSG00000176754 tier1 - - 28 0 0.00 22 7 24.14 LINC00654 0 genome.wustl.edu 37 20 5479726 5479726 + RNA SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 20 5479726 5479726 G A SNP LINC00654 ENST00000379053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00654 HGNC ENSG00000205181 tier1 - - 54 0 0.00 45 15 25.00 LIX1 0 genome.wustl.edu 37 5 96460290 96460290 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 96460290 96460290 C T SNP LIX1 ENST00000274382 human ensembl 74_37 -1 known silent c.126 p.Q42 1.000 NULL NULL - no_errors LIX1 HGNC ENSG00000145721 43 0 0.00 38 2 5.00 LOC644669 0 genome.wustl.edu 37 18 15330244 15330244 + RNA SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 18 15330244 15330244 G A SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 tier1 - - 63 0 0.00 45 22 32.84 LRFN5 0 genome.wustl.edu 37 14 42077703 42077703 + RNA SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 42077703 42077703 G A SNP LRFN5 ENST00000553926 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 75 0 0.00 77 23 23.00 LRFN5 0 genome.wustl.edu 37 14 42077704 42077704 + RNA SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 42077704 42077704 C A SNP LRFN5 ENST00000553926 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 73 0 0.00 76 22 22.22 LRP2 0 genome.wustl.edu 37 2 170101433 170101433 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 170101433 170101433 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.3200 p.C1067F 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 20 0 0.00 30 3 9.09 LRP4 0 genome.wustl.edu 37 11 46911919 46911919 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 46911919 46911919 G T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.1824 p.A608 0.391 superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 tier1 - - 30 0 0.00 27 4 12.90 LY75 0 genome.wustl.edu 37 2 160755458 160755458 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 160755458 160755458 C A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.207 p.W69C 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 41 0 0.00 39 4 9.30 MACF1 0 genome.wustl.edu 37 1 39924237 39924237 + RNA DEL A A - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 39924237 39924237 A - DEL MACF1 ENST00000497964 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 18 0 0.00 25 4 13.79 MAN2C1 0 genome.wustl.edu 37 15 75651724 75651724 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 75651724 75651724 G A SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.1991 p.P664L 0.014 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 tier1 - - 51 0 0.00 60 13 17.81 MAP1B 0 genome.wustl.edu 37 5 71493385 71493385 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 71493385 71493385 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.4203 p.P1401 0.994 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 18 0 0.00 31 2 6.06 MAP3K9 0 genome.wustl.edu 37 14 71204982 71204982 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 71204982 71204982 C T SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known silent c.1824 p.E608 0.146 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 tier1 - - 42 0 0.00 37 4 9.76 MARVELD2 0 genome.wustl.edu 37 5 68715775 68715775 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 68715775 68715775 C T SNP MARVELD2 ENST00000325631 human ensembl 74_37 +1 known missense c.563 p.S188L 1.000 NULL pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel - no_errors MARVELD2 HGNC ENSG00000152939 43 0 0.00 45 3 6.25 MAST2 0 genome.wustl.edu 37 1 46499772 46499772 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 46499772 46499772 G C SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.3702 p.K1234N 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_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_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 44 0 0.00 35 7 16.67 MDGA2 0 genome.wustl.edu 37 14 47613337 47613337 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 47613337 47613337 C T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.736 p.V246I 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 61 0 0.00 55 21 27.63 MED12L 0 genome.wustl.edu 37 3 150877776 150877776 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 150877776 150877776 C T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.995 p.P332L 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 33 0 0.00 55 3 5.17 METTL2A 0 genome.wustl.edu 37 17 60526062 60526062 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 60526062 60526062 G A SNP METTL2A ENST00000311506 human ensembl 74_37 +1 known missense c.1109 p.C370Y 0.994 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 51 0 0.00 66 4 5.71 MFRP 0 genome.wustl.edu 37 11 119212576 119212576 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 119212576 119212576 G A SNP MFRP ENST00000449574 human ensembl 74_37 -1 known silent c.1506 p.S502 0.853 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 74 0 0.00 67 4 5.63 MGA 0 genome.wustl.edu 37 15 42040914 42040914 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 42040914 42040914 G C SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5292 p.L1764F 0.996 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 tier1 - - 65 0 0.00 31 21 40.38 MGA 0 genome.wustl.edu 37 15 42041585 42041585 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 42041585 42041585 G C SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5780 p.G1927A 1.000 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 tier1 - - 38 0 0.00 25 13 34.21 MGA 0 genome.wustl.edu 37 15 42041731 42041731 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 42041731 42041731 G C SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5926 p.D1976H 0.859 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 tier1 - - 27 0 0.00 15 7 31.82 MGA 0 genome.wustl.edu 37 15 42041736 42041736 + Frame_Shift_Del DEL G G - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 42041736 42041736 G - DEL MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_del c.5931 p.D1979fs 0.998 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 tier1 25 0 0.00 17 7 29.17 MGA 0 genome.wustl.edu 37 15 42041908 42041908 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 42041908 42041908 G C SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.6103 p.E2035Q 0.857 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 tier1 - - 22 0 0.00 28 13 31.71 MGA 0 genome.wustl.edu 37 15 42042323 42042323 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 42042323 42042323 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.6518 p.R2173I 0.028 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 tier1 - - 22 0 0.00 24 12 33.33 MGAM 0 genome.wustl.edu 37 7 141754576 141754576 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 141754576 141754576 G T SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.3182 p.R1061L 0.992 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 83 0 0.00 44 14 24.14 MGAT4A 0 genome.wustl.edu 37 2 99271934 99271934 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 99271934 99271934 G C SNP MGAT4A ENST00000264968 human ensembl 74_37 -1 known missense c.748 p.Q250E 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4A HGNC ENSG00000071073 21 0 0.00 22 3 11.54 MIR21 0 genome.wustl.edu 37 17 57918642 57918642 + RNA SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 57918642 57918642 C T SNP MIR21 ENST00000362134 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR21 HGNC ENSG00000199004 tier1 - - 47 0 0.00 43 13 23.21 MIR520B 0 genome.wustl.edu 37 19 54204512 54204512 + RNA SNP A A C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 54204512 54204512 A C SNP MIR520B ENST00000384989 human ensembl 74_37 +1 known rna NULL NULL 0.144 - - - no_errors MIR520B HGNC ENSG00000207722 tier1 - - 38 0 0.00 55 7 11.29 MKI67 0 genome.wustl.edu 37 10 129903622 129903622 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 129903622 129903622 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.6482 p.R2161K 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 - - 46 0 0.00 38 7 15.56 MMP14 0 genome.wustl.edu 37 14 23306043 23306043 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 23306043 23306043 G A SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.17 p.R6K 0.673 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 tier1 rs17884647 - 146 0 0.00 161 45 21.84 MRPS11 0 genome.wustl.edu 37 15 89018446 89018446 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 89018446 89018446 G A SNP MRPS11 ENST00000560708 human ensembl 74_37 +1 known missense c.325 p.D109N 1.000 NULL NULL - no_errors MRPS11 HGNC ENSG00000181991 tier1 - - 63 0 0.00 56 29 34.12 MTMR11 0 genome.wustl.edu 37 1 149902816 149902816 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 149902816 149902816 G A SNP MTMR11 ENST00000361405 human ensembl 74_37 -1 known missense c.725 p.S242F 1.000 NULL NULL - no_errors MTMR11 HGNC ENSG00000014914 tier1 - - 32 0 0.00 32 8 20.00 MUC17 0 genome.wustl.edu 37 7 100680134 100680134 + Missense_Mutation SNP A A C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 100680134 100680134 A C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.5437 p.T1813P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 83 0 0.00 114 18 13.64 MUC19 0 genome.wustl.edu 37 12 40921250 40921250 + RNA SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 40921250 40921250 C A SNP MUC19 ENST00000474954 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 13 0 0.00 29 9 23.68 MVD 0 genome.wustl.edu 37 16 88722868 88722868 + RNA SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 88722868 88722868 G T SNP MVD ENST00000565720 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MVD HGNC ENSG00000167508 tier1 - - 10 0 0.00 6 6 50.00 MYH3 0 genome.wustl.edu 37 17 10551879 10551879 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 10551879 10551879 G T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.730 p.R244S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 76 0 0.00 56 4 6.67 MYOF 0 genome.wustl.edu 37 10 95079771 95079771 + Splice_Site SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 95079771 95079771 C A SNP MYOF ENST00000359263 human ensembl 74_37 -1 known splice_site c.5457-1 e49-1 1.000 - - - no_errors MYOF HGNC ENSG00000138119 tier1 - - 30 0 0.00 30 4 11.76 N4BP1 0 genome.wustl.edu 37 16 48596162 48596162 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 48596162 48596162 C T SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known missense c.392 p.R131K 0.337 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 tier1 - - 37 0 0.00 45 5 10.00 NAA25 0 genome.wustl.edu 37 12 112509837 112509837 + Frame_Shift_Del DEL C C - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 112509837 112509837 C - DEL NAA25 ENST00000261745 human ensembl 74_37 -1 known frame_shift_del c.898 p.E300fs 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 tier1 34 0 0.00 33 4 10.81 NAB2 0 genome.wustl.edu 37 12 57485167 57485167 + Nonsense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 57485167 57485167 C T SNP NAB2 ENST00000300131 human ensembl 74_37 +1 known nonsense c.343 p.Q115* 1.000 pfam_Nab_N pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB2 HGNC ENSG00000166886 tier1 - - 30 0 0.00 41 9 18.00 NACA 0 genome.wustl.edu 37 12 57111774 57111774 + Silent SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 57111774 57111774 A G SNP NACA ENST00000454682 human ensembl 74_37 -1 known silent c.3540 p.P1180 0.002 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 tier1 rs111848322 - 30 0 0.00 21 3 12.50 NALCN 0 genome.wustl.edu 37 13 101710386 101710386 + Missense_Mutation SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 13 101710386 101710386 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4928 p.L1643P 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 26 0 0.00 17 4 19.05 NARG2 0 genome.wustl.edu 37 15 60748894 60748894 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 60748894 60748894 C G SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known missense c.628 p.E210Q 1.000 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 tier1 - - 87 0 0.00 59 38 39.18 NBEA 0 genome.wustl.edu 37 13 35733522 35733522 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 13 35733522 35733522 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.3214 p.D1072N 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 51 0 0.00 38 23 37.70 NDEL1 0 genome.wustl.edu 37 17 8350156 8350156 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 8350156 8350156 G T SNP NDEL1 ENST00000299734 human ensembl 74_37 +1 known nonsense c.325 p.E109* 1.000 NULL pfam_NUDE_C - no_errors NDEL1 HGNC ENSG00000166579 tier1 - - 50 0 0.00 43 4 8.51 NEUROD4 0 genome.wustl.edu 37 12 55420518 55420518 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 55420518 55420518 C T SNP NEUROD4 ENST00000242994 human ensembl 74_37 +1 known missense c.295 p.R99W 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD4 HGNC ENSG00000123307 tier1 - - 39 0 0.00 32 4 11.11 NKX2-1-AS1 0 genome.wustl.edu 37 14 36988599 36988599 + RNA DEL A A - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 36988599 36988599 A - DEL NKX2-1-AS1 ENST00000521292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NKX2-1-AS1 HGNC ENSG00000253563 tier1 31 0 0.00 40 3 6.98 NOC4L 0 genome.wustl.edu 37 12 132629510 132629510 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 132629510 132629510 G A SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known missense c.229 p.V77I 0.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 tier1 - - 53 0 0.00 44 18 29.03 NONO 0 genome.wustl.edu 37 X 70520905 70520905 + RNA DEL T T - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 70520905 70520905 T - DEL NONO ENST00000490044 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors NONO HGNC ENSG00000147140 tier1 45 0 0.00 45 5 10.00 NT5C1B 0 genome.wustl.edu 37 2 18765458 18765458 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 18765458 18765458 C T SNP NT5C1B ENST00000359846 human ensembl 74_37 -1 known missense c.967 p.G323S 1.000 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 tier1 - - 34 0 0.00 22 8 26.67 NUP210L 0 genome.wustl.edu 37 1 154091197 154091197 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 154091197 154091197 G C SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.1414 p.L472V 0.997 superfamily_Invasin/intimin_cell_adhesion pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 38 0 0.00 38 14 26.92 NUPR1L 0 genome.wustl.edu 37 7 56183800 56183800 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 56183800 56183800 G A SNP NUPR1L ENST00000329309 human ensembl 74_37 -1 known missense c.208 p.R70C 1.000 pfam_Nuclear_phosphoprot_p8_DNA-bd pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1L HGNC ENSG00000185290 tier1 - - 30 0 0.00 38 5 11.63 OBSL1 0 genome.wustl.edu 37 2 220430012 220430012 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 220430012 220430012 C G SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2359 p.E787Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 tier1 - - 43 0 0.00 42 6 12.50 OLFML3 0 genome.wustl.edu 37 1 114524823 114524823 + RNA SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 114524823 114524823 C G SNP OLFML3 ENST00000491700 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OLFML3 HGNC ENSG00000116774 tier1 - - 54 0 0.00 59 13 18.06 OPA1 0 genome.wustl.edu 37 3 193384092 193384092 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 193384092 193384092 G A SNP OPA1 ENST00000361510 human ensembl 74_37 +1 known missense c.2786 p.C929Y 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF - no_errors OPA1 HGNC ENSG00000198836 49 0 0.00 54 3 5.17 OR2J2 0 genome.wustl.edu 37 6 29141566 29141566 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 29141566 29141566 G A SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known missense c.154 p.V52M 0.002 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 OR2J2 HGNC ENSG00000204700 46 0 0.00 50 3 5.66 OR4D9 0 genome.wustl.edu 37 11 59282609 59282609 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 59282609 59282609 C T SNP OR4D9 ENST00000329328 human ensembl 74_37 +1 known missense c.224 p.S75F 0.992 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 OR4D9 HGNC ENSG00000172742 tier1 - - 59 0 0.00 61 24 28.24 OR4K14 0 genome.wustl.edu 37 14 20483328 20483328 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 20483328 20483328 C T SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known missense c.25 p.V9M 0.878 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 tier1 - - 27 0 0.00 26 17 39.53 OR51A7 0 genome.wustl.edu 37 11 4928760 4928760 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 4928760 4928760 C T SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.161 p.S54L 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 59 0 0.00 30 15 33.33 OR5AU1 0 genome.wustl.edu 37 14 21623201 21623201 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 21623201 21623201 G T SNP OR5AU1 ENST00000304418 human ensembl 74_37 -1 known silent c.984 p.I328 0.989 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 OR5AU1 HGNC ENSG00000169327 tier1 - - 49 0 0.00 38 15 28.30 OTUD7B 0 genome.wustl.edu 37 1 149922096 149922096 + Nonsense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 149922096 149922096 C A SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known nonsense c.874 p.E292* 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 34 0 0.00 26 2 7.14 PAH 0 genome.wustl.edu 37 12 103238176 103238176 + Missense_Mutation SNP T T C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 103238176 103238176 T C SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.1003 p.K335E 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,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 tier1 - - 79 0 0.00 56 18 24.32 PARD3 0 genome.wustl.edu 37 10 34400148 34400148 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 34400148 34400148 C T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.4020 p.A1340 0.576 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 47 0 0.00 58 9 13.43 PARD3 0 genome.wustl.edu 37 10 34649188 34649188 + Splice_Site SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 34649188 34649188 C G SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known splice_site c.1708-1 e13-1 1.000 - - - no_errors PARD3 HGNC ENSG00000148498 tier1 - - 22 0 0.00 29 5 14.71 PAX1 0 genome.wustl.edu 37 20 21686544 21686544 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 20 21686544 21686544 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.194 p.G65D 0.931 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 24 0 0.00 13 5 27.78 PAX4 0 genome.wustl.edu 37 7 127255145 127255145 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 127255145 127255145 G T SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.125 p.S42Y 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 24 0 0.00 32 3 8.57 PBX1 0 genome.wustl.edu 37 1 164789343 164789343 + Silent SNP A A T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 164789343 164789343 A T SNP PBX1 ENST00000420696 human ensembl 74_37 +1 known silent c.1032 p.G344 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX1 HGNC ENSG00000185630 tier1 - - 72 0 0.00 45 8 15.09 PCDH10 0 genome.wustl.edu 37 4 134072089 134072089 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 134072089 134072089 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.794 p.P265Q 0.982 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 35 0 0.00 20 9 31.03 PCDHA7 0 genome.wustl.edu 37 5 140214165 140214165 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 140214165 140214165 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.197 p.A66V 0.996 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 129 0 0.00 112 23 17.04 PCDHAC2 0 genome.wustl.edu 37 5 140347393 140347393 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 140347393 140347393 C G SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1042 p.H348D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 tier1 - - 38 0 0.00 34 4 10.53 PDE5A 0 genome.wustl.edu 37 4 120528239 120528239 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 120528239 120528239 C T SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known silent c.366 p.V122 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 tier1 - - 54 0 0.00 45 19 29.69 PER1 0 genome.wustl.edu 37 17 8046067 8046067 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 8046067 8046067 G A SNP PER1 ENST00000317276 human ensembl 74_37 -1 known silent c.3159 p.S1053 0.147 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER1 HGNC ENSG00000179094 tier1 rs148594937 - 62 0 0.00 51 18 26.09 PGLYRP4 0 genome.wustl.edu 37 1 153314237 153314237 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 153314237 153314237 G A SNP PGLYRP4 ENST00000359650 human ensembl 74_37 -1 known missense c.491 p.A164V 0.902 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 tier1 - - 51 0 0.00 41 4 8.89 PGLYRP4 0 genome.wustl.edu 37 1 153317794 153317794 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 153317794 153317794 G C SNP PGLYRP4 ENST00000359650 human ensembl 74_37 -1 known missense c.204 p.C68W 0.481 superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC ENSG00000163218 tier1 - - 37 0 0.00 47 4 7.84 PGS1 0 genome.wustl.edu 37 17 76415780 76415780 + RNA SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 76415780 76415780 C A SNP PGS1 ENST00000588281 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PGS1 HGNC ENSG00000087157 tier1 - - 38 0 0.00 32 7 17.95 PHKA2 0 genome.wustl.edu 37 X 18936848 18936848 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 18936848 18936848 C T SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known silent c.2088 p.T696 0.949 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 tier1 rs151240321 - 39 0 0.00 35 6 14.63 PI4KA 0 genome.wustl.edu 37 22 21067673 21067673 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 22 21067673 21067673 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.5467 p.R1823W 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 82 0 0.00 53 3 5.36 PIDD 0 genome.wustl.edu 37 11 804101 804101 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 804101 804101 G T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known silent c.288 p.V96 0.992 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 tier1 - - 57 0 0.00 37 4 9.76 PIGO 0 genome.wustl.edu 37 9 35094020 35094020 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 9 35094020 35094020 C T SNP PIGO ENST00000341666 human ensembl 74_37 -1 known missense c.657 p.M219I 1.000 pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 tier1 - - 40 0 0.00 35 23 39.66 PIKFYVE 0 genome.wustl.edu 37 2 209200537 209200537 + Frame_Shift_Del DEL C C - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 209200537 209200537 C - DEL PIKFYVE ENST00000264380 human ensembl 74_37 +1 known frame_shift_del c.4277 p.I1427fs 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 tier1 50 0 0.00 30 16 34.78 PLEKHA5 0 genome.wustl.edu 37 12 19460013 19460013 + RNA SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 19460013 19460013 G C SNP PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.704 - - - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 - - 13 0 0.00 21 4 16.00 PLEKHA8P1 0 genome.wustl.edu 37 12 45567215 45567215 + RNA SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 45567215 45567215 C A SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 tier1 - - 60 0 0.00 62 6 8.82 POLE 0 genome.wustl.edu 37 12 133219481 133219481 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 133219481 133219481 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.4653 p.H1551 0.980 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 25 0 0.00 15 12 44.44 POLG 0 genome.wustl.edu 37 15 89862174 89862174 + Silent SNP A A T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 15 89862174 89862174 A T SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.3261 p.A1087 0.002 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 tier1 - - 23 0 0.00 10 8 44.44 POLR3A 0 genome.wustl.edu 37 10 79778932 79778932 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 79778932 79778932 G A SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.1277 p.T426M 0.004 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 40 0 0.00 29 2 6.45 PPM1D 0 genome.wustl.edu 37 17 58740434 58740434 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 58740434 58740434 G T SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known nonsense c.1339 p.E447* 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 59 0 0.00 57 3 5.00 PPP1R13B 0 genome.wustl.edu 37 14 104206306 104206306 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 104206306 104206306 G A SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.2447 p.P816L 0.989 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 tier1 rs200606453 - 31 0 0.00 33 4 10.81 PPP4C 0 genome.wustl.edu 37 16 30092589 30092589 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 30092589 30092589 G T SNP PPP4C ENST00000279387 human ensembl 74_37 +1 known missense c.108 p.L36F 1.000 smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 33 0 0.00 55 4 6.78 PRB2 0 genome.wustl.edu 37 12 11546807 11546807 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 11546807 11546807 G C SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known missense c.205 p.Q69E 0.001 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 tier1 - - 103 0 0.00 115 21 15.44 PRDM14 0 genome.wustl.edu 37 8 70981446 70981446 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 70981446 70981446 G A SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known missense c.650 p.A217V 0.002 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 50 0 0.00 74 4 5.13 PRKRIP1 0 genome.wustl.edu 37 7 102065491 102065491 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 102065491 102065491 G C SNP PRKRIP1 ENST00000397912 human ensembl 74_37 +1 known missense c.488 p.S163T 0.932 pfam_DUF1168 pfam_DUF1168 - no_errors PRKRIP1 HGNC ENSG00000128563 tier1 - - 25 0 0.00 25 17 40.48 PRKRIP1 0 genome.wustl.edu 37 7 102065493 102065493 + Missense_Mutation SNP A A C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 102065493 102065493 A C SNP PRKRIP1 ENST00000397912 human ensembl 74_37 +1 known missense c.490 p.S164R 0.963 pfam_DUF1168 pfam_DUF1168 - no_errors PRKRIP1 HGNC ENSG00000128563 tier1 - - 25 0 0.00 25 18 41.86 PRRG3 0 genome.wustl.edu 37 X 150869317 150869317 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 150869317 150869317 C T SNP PRRG3 ENST00000370353 human ensembl 74_37 +1 known missense c.508 p.R170W 0.005 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 tier1 rs143276868 - 47 0 0.00 55 9 14.06 PTENP1 0 genome.wustl.edu 37 9 33674344 33674344 + RNA DEL T T - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 9 33674344 33674344 T - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.837 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 15 0 0.00 14 3 17.65 PTGIR 0 genome.wustl.edu 37 19 47127434 47127434 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 47127434 47127434 G T SNP PTGIR ENST00000291294 human ensembl 74_37 -1 known missense c.49 p.P17T 0.996 prints_Prostglndn_IP_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt - no_errors PTGIR HGNC ENSG00000160013 22 0 0.00 28 4 12.50 PTK7 0 genome.wustl.edu 37 6 43098368 43098368 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 43098368 43098368 G A SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known missense c.781 p.E261K 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 tier1 - - 33 0 0.00 23 5 17.86 PTPRN 0 genome.wustl.edu 37 2 220164085 220164085 + Silent SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 220164085 220164085 G C SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known silent c.1545 p.T515 1.000 pfam_Receptor_IA-2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 tier1 - - 33 0 0.00 35 5 12.50 PTPRN 0 genome.wustl.edu 37 2 220161025 220161025 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 220161025 220161025 G T SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.2431 p.P811T 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_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 23 0 0.00 29 2 6.45 PTPRT 0 genome.wustl.edu 37 20 41514563 41514563 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 20 41514563 41514563 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.98 p.S33F 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 tier1 - - 45 0 0.00 61 17 21.79 PURA 0 genome.wustl.edu 37 5 139494603 139494603 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 139494603 139494603 G A SNP PURA ENST00000331327 human ensembl 74_37 +1 known silent c.837 p.K279 1.000 smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC ENSG00000185129 tier1 - - 31 0 0.00 24 4 14.29 RANBP3 0 genome.wustl.edu 37 19 5921258 5921258 + Silent SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 5921258 5921258 G C SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known silent c.1284 p.L428 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 tier1 - - 47 0 0.00 43 6 12.00 RAVER1 0 genome.wustl.edu 37 19 10428177 10428177 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 10428177 10428177 C T SNP RAVER1 ENST00000293677 human ensembl 74_37 -1 known missense c.2224 p.G742S 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 95 0 0.00 75 4 5.06 RBKS 0 genome.wustl.edu 37 2 28065945 28065945 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 28065945 28065945 C G SNP RBKS ENST00000302188 human ensembl 74_37 -1 known missense c.503 p.R168P 0.963 pfam_PfkB_dom,tigrfam_D_ribokin_bac pfam_PfkB_dom,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac - no_errors RBKS HGNC ENSG00000171174 tier1 - - 76 0 0.00 62 17 21.52 RBM19 0 genome.wustl.edu 37 12 114397134 114397134 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 114397134 114397134 C T SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.454 p.D152N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 tier1 - - 49 0 0.00 45 5 10.00 REN 0 genome.wustl.edu 37 1 204125333 204125333 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 204125333 204125333 G T SNP REN ENST00000272190 human ensembl 74_37 -1 known silent c.933 p.A311 0.306 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors REN HGNC ENSG00000143839 42 0 0.00 45 4 8.16 RGL1 0 genome.wustl.edu 37 1 183895404 183895404 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 183895404 183895404 G T SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.2390 p.R797I 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 tier1 - - 30 0 0.00 41 4 8.89 RGS4 0 genome.wustl.edu 37 1 163042230 163042230 + Silent SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 163042230 163042230 T A SNP RGS4 ENST00000421743 human ensembl 74_37 +1 known silent c.381 p.S127 0.910 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS4 HGNC ENSG00000117152 tier1 - - 52 0 0.00 48 5 9.43 RIMS2 0 genome.wustl.edu 37 8 105257203 105257203 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 105257203 105257203 G T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3394 p.V1132L 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 19 0 0.00 30 3 9.09 RIPK2 0 genome.wustl.edu 37 8 90801591 90801591 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 90801591 90801591 C G SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known missense c.1166 p.P389R 0.000 pirsf_Rcpt-int_Ser/Thr_kinase-2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom - no_errors RIPK2 HGNC ENSG00000104312 tier1 - - 44 0 0.00 33 12 26.67 RNF168 0 genome.wustl.edu 37 3 196199528 196199528 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 196199528 196199528 G A SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known missense c.878 p.S293L 0.005 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 tier1 - - 16 0 0.00 15 15 50.00 RNF213 0 genome.wustl.edu 37 17 78262164 78262164 + Splice_Site SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 78262164 78262164 T A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known splice_site c.810+2 e3+2 0.854 - - - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 27 0 0.00 32 4 11.11 RNF40 0 genome.wustl.edu 37 16 30775652 30775652 + Missense_Mutation SNP T T C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 30775652 30775652 T C SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known missense c.595 p.S199P 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 tier1 - - 54 0 0.00 44 4 8.33 ROCK2 0 genome.wustl.edu 37 2 11355639 11355639 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 11355639 11355639 C A SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.1594 p.D532Y 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 tier1 - - 60 0 0.00 59 20 25.32 RP2 0 genome.wustl.edu 37 X 46713020 46713020 + Missense_Mutation SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 46713020 46713020 A G SNP RP2 ENST00000218340 human ensembl 74_37 +1 known missense c.212 p.N71S 1.000 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 tier1 - - 63 0 0.00 34 5 12.82 RPTN 0 genome.wustl.edu 37 1 152128077 152128077 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 152128077 152128077 C T SNP RPTN ENST00000316073 human ensembl 74_37 -1 known missense c.1498 p.G500S 0.010 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 tier1 - - 213 0 0.00 187 50 21.01 RTN3 0 genome.wustl.edu 37 11 63487016 63487016 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 63487016 63487016 G A SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.1042 p.V348M 0.900 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 21 0 0.00 25 3 10.71 RUNX1T1 0 genome.wustl.edu 37 8 92998435 92998435 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 92998435 92998435 G T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1229 p.A410D 1.000 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 40 0 0.00 37 2 5.13 SCN4A 0 genome.wustl.edu 37 17 62034633 62034633 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 62034633 62034633 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known silent c.2265 p.F755 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 tier1 - - 60 0 0.00 48 11 18.64 SERINC3 0 genome.wustl.edu 37 20 43150680 43150680 + RNA SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 20 43150680 43150680 G A SNP SERINC3 ENST00000468234 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SERINC3 HGNC ENSG00000132824 tier1 - - 52 0 0.00 50 16 24.24 SESTD1 0 genome.wustl.edu 37 2 180016092 180016092 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 180016092 180016092 C T SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known silent c.396 p.L132 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 tier1 - - 66 0 0.00 48 10 17.24 SETD1A 0 genome.wustl.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 30982809 30982811 TCC 0 DEL SETD1A ENST00000262519 human ensembl 74_37 +1 known in_frame_del c.3127_3129 p.S1046in_frame_del 0.734:0.781:0.676 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 42 0 0.00 49 4 7.55 SGK223 0 genome.wustl.edu 37 8 8185481 8185481 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 8185481 8185481 G T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.2811 p.H937Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 27 0 0.00 42 3 6.67 SH3TC1 0 genome.wustl.edu 37 4 8207065 8207065 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 8207065 8207065 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known silent c.144 p.P48 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 54 0 0.00 49 10 16.95 SIRT1 0 genome.wustl.edu 37 10 69666547 69666547 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 69666547 69666547 G A SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.943 p.E315K 1.000 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 27 0 0.00 47 3 6.00 SLC11A1 0 genome.wustl.edu 37 2 219249019 219249019 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 219249019 219249019 G T SNP SLC11A1 ENST00000233202 human ensembl 74_37 +1 known missense c.204 p.M68I 1.000 tigrfam_NRAMP-like pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like - no_errors SLC11A1 HGNC ENSG00000018280 tier1 - - 49 0 0.00 47 4 7.84 SLC30A2 0 genome.wustl.edu 37 1 26365766 26365766 + Missense_Mutation SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 26365766 26365766 T A SNP SLC30A2 ENST00000374276 human ensembl 74_37 -1 known missense c.1004 p.K335M 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC ENSG00000158014 tier1 - - 26 0 0.00 40 5 11.11 SLC7A9 0 genome.wustl.edu 37 19 33333110 33333110 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 33333110 33333110 C T SNP SLC7A9 ENST00000023064 human ensembl 74_37 -1 known missense c.1188 p.M396I 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A9 HGNC ENSG00000021488 tier1 - - 27 0 0.00 38 4 9.52 SLCO1C1 0 genome.wustl.edu 37 12 20903690 20903690 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 20903690 20903690 G C SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.1880 p.R627T 0.099 pfam_OA_transporter,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 59 0 0.00 47 16 25.40 SMARCAD1 0 genome.wustl.edu 37 4 95199585 95199585 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 95199585 95199585 G C SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.2095 p.E699Q 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 tier1 - - 46 0 0.00 42 10 19.23 SMG6 0 genome.wustl.edu 37 17 2203562 2203562 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 2203562 2203562 C T SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.485 p.R162Q 0.002 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 tier1 - - 59 0 0.00 47 15 24.19 SNRNP200 0 genome.wustl.edu 37 2 96956138 96956138 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 96956138 96956138 C T SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.2668 p.E890K 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 tier1 - - 49 0 0.00 22 8 26.67 SNX11 0 genome.wustl.edu 37 17 46198856 46198856 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 46198856 46198856 G T SNP SNX11 ENST00000359238 human ensembl 74_37 +1 known missense c.799 p.V267F 0.006 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 tier1 - - 58 0 0.00 72 4 5.26 SORBS1 0 genome.wustl.edu 37 10 97194456 97194456 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 97194456 97194456 C A SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.95 p.R32L 0.985 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 31 0 0.00 16 2 11.11 SPAG9 0 genome.wustl.edu 37 17 49077040 49077041 + Frame_Shift_Ins INS - - T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 49077040 49077041 0 T INS SPAG9 ENST00000262013 human ensembl 74_37 -1 known frame_shift_ins c.1646_1645 p.R549fs 1.000:1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 63 0 0.00 75 6 7.41 SPATA13 0 genome.wustl.edu 37 13 24798292 24798292 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 13 24798292 24798292 G A SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.1225 p.V409I 0.013 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 tier1 - - 67 0 0.00 32 29 47.54 SRRM2 0 genome.wustl.edu 37 16 2812373 2812373 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 2812373 2812373 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.1844 p.S615F 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 55 0 0.00 38 8 17.39 SRRM2 0 genome.wustl.edu 37 16 2812379 2812379 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 2812379 2812379 C G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.1850 p.S617C 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 54 0 0.00 37 8 17.78 SRRM2 0 genome.wustl.edu 37 16 2812877 2812877 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 2812877 2812877 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.2348 p.S783F 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 33 0 0.00 42 5 10.64 SRRM2 0 genome.wustl.edu 37 16 2812817 2812817 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 2812817 2812817 C G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.2288 p.S763C 1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 32 0 0.00 30 4 11.76 STAM 0 genome.wustl.edu 37 10 17737170 17737170 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 17737170 17737170 G T SNP STAM ENST00000377524 human ensembl 74_37 +1 known missense c.658 p.D220Y 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 tier1 - - 71 0 0.00 56 10 15.15 STAT5B 0 genome.wustl.edu 37 17 40359718 40359718 + Silent SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 40359718 40359718 A G SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known silent c.1935 p.P645 0.944 pfam_SH2,smart_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 tier1 - - 30 0 0.00 57 4 6.56 SYAP1 0 genome.wustl.edu 37 X 16761850 16761850 + Silent SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 16761850 16761850 T A SNP SYAP1 ENST00000380155 human ensembl 74_37 +1 known silent c.462 p.P154 0.994 NULL pfam_BSD,smart_BSD,pfscan_BSD - no_errors SYAP1 HGNC ENSG00000169895 tier1 - - 53 0 0.00 43 5 10.42 TAPBP 0 genome.wustl.edu 37 6 33272235 33272235 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 33272235 33272235 G A SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known missense c.1049 p.S350L 0.980 pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 tier1 - - 47 0 0.00 70 16 18.60 TBC1D22A 0 genome.wustl.edu 37 22 47507497 47507497 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 22 47507497 47507497 C G SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known missense c.1423 p.Q475E 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 tier1 - - 56 0 0.00 36 17 32.08 TCEB3B 0 genome.wustl.edu 37 18 44561247 44561247 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 18 44561247 44561247 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.389 p.R130Q 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 98 0 0.00 59 32 34.78 TCOF1 0 genome.wustl.edu 37 5 149755735 149755735 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 149755735 149755735 G T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.1984 p.G662C 0.002 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 - - 18 0 0.00 24 7 22.58 TENM4 0 genome.wustl.edu 37 11 78443405 78443405 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 78443405 78443405 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.3094 p.A1032T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 50 0 0.00 52 4 7.14 TLN1 0 genome.wustl.edu 37 9 35700035 35700035 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 9 35700035 35700035 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.6704 p.R2235Q 1.000 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 tier1 - - 29 0 0.00 17 19 52.78 TMCO4 0 genome.wustl.edu 37 1 20097816 20097816 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 20097816 20097816 C T SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known silent c.339 p.P113 0.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 tier1 - - 36 0 0.00 34 10 22.73 TMED10 0 genome.wustl.edu 37 14 75601670 75601670 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 14 75601670 75601670 G A SNP TMED10 ENST00000303575 human ensembl 74_37 -1 known missense c.578 p.S193L 1.000 pfam_GOLD,pfscan_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED10 HGNC ENSG00000170348 tier1 - - 33 0 0.00 36 9 20.00 TMEM117 0 genome.wustl.edu 37 12 44781966 44781966 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 44781966 44781966 G C SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known missense c.1056 p.L352F 0.999 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 tier1 - - 45 0 0.00 44 11 20.00 TMEM211 0 genome.wustl.edu 37 22 25334229 25334229 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 22 25334229 25334229 C T SNP TMEM211 ENST00000423535 human ensembl 74_37 -1 known missense c.227 p.G76D 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM211 HGNC ENSG00000206069 36 0 0.00 38 2 5.00 TNFRSF4 0 genome.wustl.edu 37 1 1147001 1147001 + Silent SNP T T C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 1147001 1147001 T C SNP TNFRSF4 ENST00000379236 human ensembl 74_37 -1 known silent c.768 p.G256 0.985 prints_TNFR_4 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_4 - no_errors TNFRSF4 HGNC ENSG00000186827 35 0 0.00 55 3 5.17 TNFRSF8 0 genome.wustl.edu 37 1 12164492 12164492 + Nonsense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 12164492 12164492 C T SNP TNFRSF8 ENST00000263932 human ensembl 74_37 +1 known nonsense c.325 p.R109* 0.146 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 tier1 rs148756853 - 61 0 0.00 43 12 21.82 TNKS 0 genome.wustl.edu 37 8 9437894 9437894 + Splice_Site SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 9437894 9437894 G T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known splice_site c.898+1 e2+1 1.000 - - - no_errors TNKS HGNC ENSG00000173273 18 0 0.00 36 3 7.69 TNS1 0 genome.wustl.edu 37 2 218762544 218762544 + Missense_Mutation SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 218762544 218762544 A G SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.145 p.S49P 1.000 pfscan_Phosphatase_tensin-typ 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 tier1 - - 42 0 0.00 46 4 8.00 TOPAZ1 0 genome.wustl.edu 37 3 44323479 44323479 + Missense_Mutation SNP A A T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 44323479 44323479 A T SNP TOPAZ1 ENST00000309765 human ensembl 74_37 +1 known missense c.3392 p.K1131M 1.000 NULL NULL - no_errors TOPAZ1 HGNC ENSG00000173769 81 0 0.00 73 4 5.19 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121913343 - 31 0 0.00 22 5 18.52 TP53 0 genome.wustl.edu 37 17 7578260 7578260 + Missense_Mutation SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 17 7578260 7578260 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.589 p.V197L 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 59 0 0.00 38 19 33.33 TRAPPC11 0 genome.wustl.edu 37 4 184587394 184587394 + RNA SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 184587394 184587394 C A SNP TRAPPC11 ENST00000504526 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors TRAPPC11 HGNC ENSG00000168538 tier1 - - 42 0 0.00 51 13 20.31 TRIM24 0 genome.wustl.edu 37 7 138189074 138189074 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 138189074 138189074 C T SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.404 p.A135V 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 29 0 0.00 24 2 7.69 TRIM49 0 genome.wustl.edu 37 11 89531759 89531759 + Missense_Mutation SNP T T C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 89531759 89531759 T C SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.898 p.I300V 0.000 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 tier1 - - 97 0 0.00 82 20 19.61 TRIM49C 0 genome.wustl.edu 37 11 89774257 89774257 + Missense_Mutation SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 89774257 89774257 A G SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.898 p.I300V 0.000 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 70 0 0.00 75 4 5.06 TRMT11 0 genome.wustl.edu 37 6 126329537 126329537 + Splice_Site SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 6 126329537 126329537 G T SNP TRMT11 ENST00000334379 human ensembl 74_37 +1 known splice_site c.680-1 e8-1 1.000 - - - no_errors TRMT11 HGNC ENSG00000066651 32 0 0.00 29 2 6.45 TRPC2 0 genome.wustl.edu 37 11 3656575 3656575 + RNA SNP C C A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 3656575 3656575 C A SNP TRPC2 ENST00000526541 human ensembl 74_37 +1 known rna NULL NULL 0.364 - - - no_errors TRPC2 HGNC ENSG00000182048 tier1 - - 76 0 0.00 59 23 28.05 TRPV6 0 genome.wustl.edu 37 7 142571887 142571887 + Frame_Shift_Del DEL A A - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 7 142571887 142571887 A - DEL TRPV6 ENST00000359396 human ensembl 74_37 -1 known frame_shift_del c.1461 p.F487fs 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 tier1 32 0 0.00 32 2 5.88 TSGA10 0 genome.wustl.edu 37 2 99697803 99697803 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 99697803 99697803 C G SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.669 p.K223N 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 99 0 0.00 92 25 21.37 TTN 0 genome.wustl.edu 37 2 179424251 179424251 + Missense_Mutation SNP C C G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 179424251 179424251 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.78904 p.E26302Q 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 - - 46 0 0.00 36 7 16.28 TTN 0 genome.wustl.edu 37 2 179610671 179610671 + Missense_Mutation SNP T T C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 179610671 179610671 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.16456 p.T5486A 1.000 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 - - 33 0 0.00 20 5 20.00 TTN 0 genome.wustl.edu 37 2 179408016 179408016 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 179408016 179408016 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.88980 p.Y29660 0.030 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 31 0 0.00 36 2 5.26 TTN 0 genome.wustl.edu 37 2 179647638 179647638 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 179647638 179647638 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2995 p.R999C 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 18 0 0.00 27 4 12.90 TUBGCP2 0 genome.wustl.edu 37 10 135098607 135098607 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 135098607 135098607 G A SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.2090 p.S697L 0.440 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 tier1 - - 87 0 0.00 62 18 22.50 UBR3 0 genome.wustl.edu 37 2 170865359 170865359 + Missense_Mutation SNP A A G TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 2 170865359 170865359 A G SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known missense c.4276 p.I1426V 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 tier1 - - 59 0 0.00 67 14 17.28 USP16 0 genome.wustl.edu 37 21 30411852 30411852 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 21 30411852 30411852 G A SNP USP16 ENST00000334352 human ensembl 74_37 +1 known missense c.914 p.R305H 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 47 0 0.00 56 3 5.08 USP6NL 0 genome.wustl.edu 37 10 11505072 11505072 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 11505072 11505072 G T SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.1924 p.L642I 0.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 tier1 - - 42 0 0.00 61 4 6.15 VKORC1 0 genome.wustl.edu 37 16 31104658 31104658 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 16 31104658 31104658 G A SNP VKORC1 ENST00000498155 human ensembl 74_37 -1 putative missense c.355 p.L119F 1.000 NULL NULL - no_errors VKORC1 HGNC ENSG00000167397 tier1 - - 71 0 0.00 89 10 10.10 VPS13B 0 genome.wustl.edu 37 8 100147953 100147953 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 100147953 100147953 C T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.1555 p.H519Y 0.998 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 43 0 0.00 43 25 36.76 VPS8 0 genome.wustl.edu 37 3 184711826 184711826 + Missense_Mutation SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 3 184711826 184711826 T A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.3641 p.M1214K 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 tier1 - - 107 0 0.00 90 18 16.67 VWA2 0 genome.wustl.edu 37 10 116045741 116045741 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 10 116045741 116045741 G A SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known silent c.1041 p.L347 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 tier1 - - 44 0 0.00 38 4 9.52 WEE1 0 genome.wustl.edu 37 11 9603162 9603162 + Nonsense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 9603162 9603162 C T SNP WEE1 ENST00000450114 human ensembl 74_37 +1 known nonsense c.1225 p.Q409* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE1 HGNC ENSG00000166483 tier1 - - 47 0 0.00 43 4 8.51 WFS1 0 genome.wustl.edu 37 4 6293094 6293094 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 4 6293094 6293094 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.631 p.D211N 0.983 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 tier1 rs138682654 - 11 0 0.00 8 6 42.86 WIF1 0 genome.wustl.edu 37 12 65514254 65514254 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 65514254 65514254 C T SNP WIF1 ENST00000286574 human ensembl 74_37 -1 known missense c.231 p.M77I 1.000 pfam_WIF,smart_WIF,pfscan_WIF,prints_Wnt-inh pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 38 0 0.00 62 4 6.06 WNK1 0 genome.wustl.edu 37 12 960821 960821 + RNA SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 12 960821 960821 C T SNP WNK1 ENST00000538787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 20 0 0.00 22 13 37.14 XRRA1 0 genome.wustl.edu 37 11 74638464 74638464 + Missense_Mutation SNP A A C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 11 74638464 74638464 A C SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.470 p.V157G 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 50 0 0.00 42 6 12.50 ZBTB17 0 genome.wustl.edu 37 1 16269652 16269652 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 16269652 16269652 G A SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.1735 p.H579Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 tier1 - - 56 0 0.00 61 11 15.28 ZFAT 0 genome.wustl.edu 37 8 135614789 135614789 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 8 135614789 135614789 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known silent c.1173 p.L391 0.581 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 21 0 0.00 23 11 32.35 ZNF185 0 genome.wustl.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d X 152087570 152087572 GAG - DEL ZNF185 ENST00000370270 human ensembl 74_37 +1 known in_frame_del c.475_477 p.E162in_frame_del 0.026:0.052:0.078 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 38 0 0.00 39 7 15.22 ZNF333 0 genome.wustl.edu 37 19 14829423 14829423 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 14829423 14829423 G T SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known silent c.1284 p.G428 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 tier1 - - 26 0 0.00 28 4 12.50 ZNF354C 0 genome.wustl.edu 37 5 178506461 178506461 + Missense_Mutation SNP T T A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 5 178506461 178506461 T A SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.1028 p.L343H 0.152 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354C HGNC ENSG00000177932 tier1 - - 34 0 0.00 31 4 11.43 ZNF358 0 genome.wustl.edu 37 19 7585086 7585086 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 7585086 7585086 C T SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.958 p.R320C 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 tier1 - - 26 0 0.00 19 7 26.92 ZNF540 0 genome.wustl.edu 37 19 38102736 38102736 + Silent SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 38102736 38102736 G A SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known silent c.555 p.V185 0.424 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 tier1 - - 34 0 0.00 46 13 22.03 ZNF57 0 genome.wustl.edu 37 19 2916945 2916945 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 2916945 2916945 G A SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known missense c.326 p.C109Y 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF57 HGNC ENSG00000171970 32 0 0.00 27 2 6.90 ZNF627 0 genome.wustl.edu 37 19 11728069 11728069 + Missense_Mutation SNP T T C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 11728069 11728069 T C SNP ZNF627 ENST00000361113 human ensembl 74_37 +1 known missense c.751 p.Y251H 0.968 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 ZNF627 HGNC ENSG00000198551 tier1 - - 34 0 0.00 54 4 6.90 ZNF776 0 genome.wustl.edu 37 19 58264886 58264886 + Missense_Mutation SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 58264886 58264886 C T SNP ZNF776 ENST00000317178 human ensembl 74_37 +1 known missense c.388 p.H130Y 0.015 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF776 HGNC ENSG00000152443 tier1 - - 47 0 0.00 44 8 15.38 ZNF99 0 genome.wustl.edu 37 19 22939092 22939092 + Missense_Mutation SNP T T C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 19 22939092 22939092 T C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.3029 p.Y1010C 0.041 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 42 0 0.00 41 3 6.82 ZYG11A 0 genome.wustl.edu 37 1 53358486 53358486 + Nonsense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3440197d-00e0-4cbf-8332-763812ca2d0b a7ce1ff9-9b8c-4425-b183-9d822a39913d 1 53358486 53358486 G T SNP ZYG11A ENST00000371528 human ensembl 74_37 +1 known nonsense c.2137 p.E713* 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11A HGNC ENSG00000203995 59 0 0.00 60 4 6.25