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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val OFCC1 0 genome.wustl.edu 37 6 9933033 9933033 + Missense_Mutation SNP A A G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 6 9933033 9933033 A G SNP OFCC1 ENST00000316020 human ensembl 74_37 -1 known missense c.430 p.F144L 0.831 NULL NULL - no_errors OFCC1 HGNC ENSG00000181355 tier1 - - 30 0 0.00 46 9 16.36 PTPRC 0 genome.wustl.edu 37 1 198663236 198663236 + Frame_Shift_Del DEL C C - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 198663236 198663236 C - DEL PTPRC ENST00000413409 human ensembl 74_37 +1 putative frame_shift_del c.190 p.P64fs 0.022 NULL pfam_PTP_recept_N - no_errors PTPRC HGNC ENSG00000081237 tier1 14 0 0.00 18 2 10.00 LRFN5 0 genome.wustl.edu 37 14 42236163 42236163 + R SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 14 42236163 42236163 C T SNP LRFN5 ENST00000555279 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 38 0 0.00 25 5 16.67 CAMSAP3 0 genome.wustl.edu 37 19 7676960 7676960 + Silent SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 19 7676960 7676960 G A SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known silent c.1662 p.S554 0.003 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 tier1 - - 55 0 0.00 124 16 11.43 DYSF 0 genome.wustl.edu 37 2 71838463 71838463 + Missense_Mutation SNP G G C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 71838463 71838463 G C SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.4085 p.R1362P 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 tier1 - - 36 0 0.00 40 8 16.67 RAB17 0 genome.wustl.edu 37 2 238494745 238494745 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 238494745 238494745 C T SNP RAB17 ENST00000264601 human ensembl 74_37 -1 known missense c.53 p.R18H 0.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB17 HGNC ENSG00000124839 tier1 - - 40 0 0.00 45 21 31.82 PMEL 0 genome.wustl.edu 37 12 56355454 56355454 + Nonsense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 12 56355454 56355454 G A SNP PMEL ENST00000360714 human ensembl 74_37 -1 known nonsense c.139 p.Q47* 0.606 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC ENSG00000185664 tier1 - - 38 0 0.00 30 11 26.83 DDX60 0 genome.wustl.edu 37 4 169196597 169196597 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 4 169196597 169196597 G T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.2203 p.P735T 0.971 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 tier1 - - 44 0 0.00 93 18 16.22 TF 0 genome.wustl.edu 37 3 133494415 133494415 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 3 133494415 133494415 G A SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1826 p.R609Q 0.225 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 tier1 - - 51 0 0.00 31 13 29.55 TUBB4A 0 genome.wustl.edu 37 19 6495616 6495616 + Silent SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 19 6495616 6495616 G A SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known silent c.894 p.N298 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 tier1 - - 82 0 0.00 111 65 36.93 LCN8 0 genome.wustl.edu 37 9 139650488 139650488 + R SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 9 139650488 139650488 G A SNP LCN8 ENST00000482893 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors LCN8 HGNC ENSG00000204001 tier1 - - 116 0 0.00 91 77 45.83 FMO5 0 genome.wustl.edu 37 1 146658726 146658726 + Missense_Mutation SNP A A G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 146658726 146658726 A G SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known missense c.1355 p.L452P 0.986 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 tier1 - - 38 0 0.00 30 9 23.08 AMBRA1 0 genome.wustl.edu 37 11 46419176 46419176 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 11 46419176 46419176 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.3721 p.R1241W 0.887 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 47 0 0.00 42 14 25.00 PDE6B 0 genome.wustl.edu 37 4 629751 629751 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 4 629751 629751 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.704 p.R235H 0.997 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 tier1 - - 28 0 0.00 27 10 27.03 SRP14 0 genome.wustl.edu 37 15 40328421 40328421 + R SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 15 40328421 40328421 C T SNP SRP14 ENST00000558527 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors SRP14 HGNC ENSG00000140319 tier1 - - 92 0 0.00 115 10 8.00 AFF2 0 genome.wustl.edu 37 X 148048590 148048590 + Missense_Mutation SNP A A G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 X 148048590 148048590 A G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3184 p.K1062E 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 44 0 0.00 60 11 15.49 ARHGAP22 0 genome.wustl.edu 37 10 49654635 49654635 + Missense_Mutation SNP T T A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 10 49654635 49654635 T A SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.1944 p.R648S 0.032 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 tier1 - - 35 0 0.00 40 6 13.04 ARAP3 0 genome.wustl.edu 37 5 141036319 141036319 + Frame_Shift_Del DEL T T - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 5 141036319 141036319 T - DEL ARAP3 ENST00000239440 human ensembl 74_37 -1 known frame_shift_del c.3621 p.V1208fs 0.993 pfscan_Ras-assoc pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 tier1 33 0 0.00 46 12 20.69 ADAM2 0 genome.wustl.edu 37 8 39606929 39606929 + Missense_Mutation SNP T T C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 8 39606929 39606929 T C SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.1916 p.Y639C 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 tier1 rs113117613 GMAF=0.0005 41 0 0.00 26 3 10.34 UNC13B 0 genome.wustl.edu 37 9 35403170 35403170 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 9 35403170 35403170 G T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.4301 p.G1434V 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 tier1 - - 62 0 0.00 34 44 56.41 STK32C 0 genome.wustl.edu 37 10 134036442 134036442 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 10 134036442 134036442 G T SNP STK32C ENST00000368625 human ensembl 74_37 -1 known missense c.1081 p.Q361K 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32C HGNC ENSG00000165752 tier1 - - 43 0 0.00 38 4 9.52 FAM221B 0 genome.wustl.edu 37 9 35818940 35818940 + Missense_Mutation SNP T T C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 9 35818940 35818940 T C SNP FAM221B ENST00000423537 human ensembl 74_37 -1 known missense c.1118 p.H373R 0.999 NULL NULL - no_errors FAM221B HGNC ENSG00000204930 tier1 - - 67 0 0.00 143 16 10.06 OR2V2 0 genome.wustl.edu 37 5 180582588 180582588 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 5 180582588 180582588 G A SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known missense c.646 p.V216M 0.052 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 OR2V2 HGNC ENSG00000182613 tier1 - - 126 1 0.79 150 54 26.47 STK17B 0 genome.wustl.edu 37 2 197021263 197021263 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 197021263 197021263 G T SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.235 p.H79N 0.993 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK17B HGNC ENSG00000081320 tier1 - - 45 0 0.00 50 5 9.09 NPIPB11 0 genome.wustl.edu 37 16 29394193 29394193 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 16 29394193 29394193 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.2060 p.P687L 0.002 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 19 0 0.00 29 7 19.44 PCDHB3 0 genome.wustl.edu 37 5 140481898 140481898 + Silent SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 5 140481898 140481898 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.1665 p.N555 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 123 0 0.00 125 20 13.79 SAG 0 genome.wustl.edu 37 2 234229408 234229408 + Missense_Mutation SNP C C A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 234229408 234229408 C A SNP SAG ENST00000409110 human ensembl 74_37 +1 known missense c.314 p.T105K 0.917 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 tier1 - - 39 0 0.00 80 11 12.09 SSPO 0 genome.wustl.edu 37 7 149521663 149521663 + R SNP T T A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 7 149521663 149521663 T A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 25 0 0.00 32 19 37.25 OR5AK2 0 genome.wustl.edu 37 11 56756609 56756609 + Missense_Mutation SNP C C G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 11 56756609 56756609 C G SNP OR5AK2 ENST00000326855 human ensembl 74_37 +1 known missense c.221 p.T74S 0.003 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 OR5AK2 HGNC ENSG00000181273 tier1 - - 94 0 0.00 71 30 29.70 PGC 0 genome.wustl.edu 37 6 41708334 41708334 + Missense_Mutation SNP C C G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 6 41708334 41708334 C G SNP PGC ENST00000373025 human ensembl 74_37 -1 known missense c.662 p.S221T 0.047 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGC HGNC ENSG00000096088 tier1 - - 42 0 0.00 17 37 68.52 TRDN 0 genome.wustl.edu 37 6 123580784 123580784 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 6 123580784 123580784 C T SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.1855 p.E619K 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 - - 70 0 0.00 79 11 12.09 ASB2 0 genome.wustl.edu 37 14 94404161 94404161 + Missense_Mutation SNP A A T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 14 94404161 94404161 A T SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known missense c.1510 p.W504R 1.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 tier1 - - 39 0 0.00 52 8 13.33 UPP2 0 genome.wustl.edu 37 2 158977927 158977927 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 158977927 158977927 C T SNP UPP2 ENST00000409859 human ensembl 74_37 +1 known missense c.632 p.A211V 0.233 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 tier1 - - 70 0 0.00 52 18 25.71 SLC47A1 0 genome.wustl.edu 37 17 19451359 19451359 + Missense_Mutation SNP T T A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 17 19451359 19451359 T A SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.368 p.L123Q 1.000 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 tier1 - - 57 0 0.00 73 15 17.05 FES 0 genome.wustl.edu 37 15 91430557 91430557 + Missense_Mutation SNP C C A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 15 91430557 91430557 C A SNP FES ENST00000328850 human ensembl 74_37 +1 known missense c.625 p.L209M 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SRE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 tier1 - - 51 0 0.00 56 14 20.00 WASH6P 0 genome.wustl.edu 37 X 155254016 155254016 + R SNP T T C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 X 155254016 155254016 T C SNP WASH6P ENST00000461007 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors WASH6P HGNC ENSG00000182484 tier1 - - 8 0 0.00 11 8 42.11 ALDH1A2 0 genome.wustl.edu 37 15 58357739 58357739 + Missense_Mutation SNP T T C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 15 58357739 58357739 T C SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.110 p.Y37C 1.000 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 tier1 - - 81 0 0.00 97 23 19.17 ABHD15 0 genome.wustl.edu 37 17 27889778 27889778 + Nonsense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 17 27889778 27889778 C T SNP ABHD15 ENST00000307201 human ensembl 74_37 -1 known nonsense c.1208 p.W403* 1.000 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 tier1 - - 34 0 0.00 30 9 23.08 FLJ20444 0 genome.wustl.edu 37 9 66513513 66513513 + R SNP C C A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 9 66513513 66513513 C A SNP FLJ20444 ENST00000586625 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000234665 tier1 rs201075544 - 85 0 0.00 125 16 11.35 CD200R1L 0 genome.wustl.edu 37 3 112545911 112545911 + Frame_Shift_Del DEL T T - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 3 112545911 112545911 T - DEL CD200R1L ENST00000398214 human ensembl 74_37 -1 known frame_shift_del c.608 p.H203fs 0.000 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors CD200R1L HGNC ENSG00000206531 tier1 65 0 0.00 35 4 10.26 SSPO 0 genome.wustl.edu 37 7 149506494 149506494 + R SNP T T A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 7 149506494 149506494 T A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 87 0 0.00 97 36 27.07 ANXA8L2 0 genome.wustl.edu 37 10 47756669 47756669 + Frame_Shift_Del DEL G G - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 10 47756669 47756669 G - DEL ANXA8L2 ENST00000374277 human ensembl 74_37 +1 known frame_shift_del c.583 p.T196fs 0.827 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVIII,prints_AnnexinIII - no_errors ANXA8L2 HGNC ENSG00000186807 tier1 82 0 0.00 56 8 12.50 LOC440416 0 genome.wustl.edu 37 17 20841832 20841833 + R INS - - CGATGA TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 17 20841832 20841833 - CGATGA INS LOC440416 ENST00000577968 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.002 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 tier1 BCL2L15 0 genome.wustl.edu 37 1 114429916 114429916 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 114429916 114429916 G T SNP BCL2L15 ENST00000393316 human ensembl 74_37 -1 known missense c.82 p.Q28K 0.000 NULL NULL - no_errors BCL2L15 HGNC ENSG00000188761 tier1 - - 36 0 0.00 32 4 11.11 SRP14 0 genome.wustl.edu 37 15 40328420 40328420 + R SNP C C G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 15 40328420 40328420 C G SNP SRP14 ENST00000558527 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors SRP14 HGNC ENSG00000140319 tier1 - - 91 0 0.00 114 10 8.06 ACSM5 0 genome.wustl.edu 37 16 20442633 20442633 + Missense_Mutation SNP A A G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 16 20442633 20442633 A G SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.1298 p.N433S 0.010 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 79 0 0.00 21 47 69.12 LAMP5 0 genome.wustl.edu 37 20 9498740 9498740 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 20 9498740 9498740 G A SNP LAMP5 ENST00000246070 human ensembl 74_37 +1 known missense c.529 p.G177R 1.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop - no_errors LAMP5 HGNC ENSG00000125869 tier1 - - 67 0 0.00 24 110 82.09 SLC8A3 0 genome.wustl.edu 37 14 70634623 70634623 + Missense_Mutation SNP T T C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 14 70634623 70634623 T C SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.517 p.S173G 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 tier1 - - 60 0 0.00 55 7 11.29 PCSK2 0 genome.wustl.edu 37 20 17462530 17462530 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 20 17462530 17462530 G A SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.1732 p.A578T 0.001 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 tier1 - - 27 0 0.00 66 17 20.48 CYP4X1 0 genome.wustl.edu 37 1 47505383 47505383 + R DEL A A - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 47505383 47505383 A - DEL CYP4X1 ENST00000466294 human ensembl 74_37 +1 known rna NULL NULL 0.100 - - - no_errors CYP4X1 HGNC ENSG00000186377 tier1 15 0 0.00 18 3 14.29 PRKAA1 0 genome.wustl.edu 37 5 40765100 40765100 + Silent SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 5 40765100 40765100 C T SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known silent c.1107 p.A369 0.250 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 tier1 - - 50 0 0.00 61 31 33.70 PIGC 0 genome.wustl.edu 37 1 172413160 172413160 + R SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 172413160 172413160 C T SNP PIGC ENST00000484368 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PIGC HGNC ENSG00000135845 tier1 - - 37 0 0.00 38 12 24.00 GLI2 0 genome.wustl.edu 37 2 121745876 121745876 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 121745876 121745876 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.2386 p.V796M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 tier1 - - 14 0 0.00 6 17 73.91 FCRL3 0 genome.wustl.edu 37 1 157668317 157668317 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 157668317 157668317 G T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.155 p.A52D 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 39 0 0.00 35 4 10.26 PHC1 0 genome.wustl.edu 37 12 9085405 9085405 + Missense_Mutation SNP C C A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 12 9085405 9085405 C A SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known missense c.1352 p.P451Q 0.996 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 tier1 - - 96 0 0.00 101 26 20.47 ADH7 0 genome.wustl.edu 37 4 100349113 100349113 + Silent SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 4 100349113 100349113 G T SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known silent c.417 p.T139 0.141 pfam_ADH_GroES-like,superfamily_GroES-like pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 tier1 - - 42 0 0.00 32 6 15.79 CHP2 0 genome.wustl.edu 37 16 23768606 23768606 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 16 23768606 23768606 G T SNP CHP2 ENST00000300113 human ensembl 74_37 +1 known missense c.499 p.D167Y 0.985 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CHP2 HGNC ENSG00000166869 tier1 - - 65 0 0.00 53 12 18.46 TMEM38B 0 genome.wustl.edu 37 9 108456972 108456972 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 9 108456972 108456972 G A SNP TMEM38B ENST00000374692 human ensembl 74_37 +1 known missense c.31 p.A11T 0.218 NULL pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 tier1 - - 62 0 0.00 60 31 34.07 PRDM9 0 genome.wustl.edu 37 5 23523455 23523455 + Missense_Mutation SNP C C G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 5 23523455 23523455 C G SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.938 p.A313G 1.000 pfscan_SET_dom pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 59 0 0.00 98 20 16.95 DNM1P51 0 genome.wustl.edu 37 15 84953090 84953090 + R DEL G G - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 15 84953090 84953090 G - DEL DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.402 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 11 0 0.00 7 6 46.15 POLL 0 genome.wustl.edu 37 10 103339146 103339146 + R SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 10 103339146 103339146 G A SNP POLL ENST00000463515 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POLL HGNC ENSG00000166169 tier1 - - 88 0 0.00 56 19 25.33 IFLTD1 0 genome.wustl.edu 37 12 25801455 25801455 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 12 25801455 25801455 C T SNP IFLTD1 ENST00000445693 human ensembl 74_37 -1 putative missense c.31 p.G11S 0.001 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 tier1 - - 55 0 0.00 49 16 24.62 CBR3 0 genome.wustl.edu 37 21 37518520 37518520 + Nonsense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 21 37518520 37518520 G T SNP CBR3 ENST00000290354 human ensembl 74_37 +1 known nonsense c.544 p.E182* 0.994 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR3 HGNC ENSG00000159231 tier1 - - 52 0 0.00 41 11 21.15 SCAF11 0 genome.wustl.edu 37 12 46325318 46325318 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 12 46325318 46325318 G A SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.812 p.P271L 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 tier1 - - 48 0 0.00 89 9 9.18 MUM1L1 0 genome.wustl.edu 37 X 105450724 105450724 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 X 105450724 105450724 G T SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1299 p.K433N 0.994 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 tier1 - - 55 0 0.00 13 12 48.00 CTPS1 0 genome.wustl.edu 37 1 41467863 41467863 + Nonsense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 41467863 41467863 C T SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known nonsense c.1126 p.R376* 1.000 pfam_GATASE,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 tier1 - - 133 0 0.00 125 26 17.22 GRIK5 0 genome.wustl.edu 37 19 42510901 42510901 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 19 42510901 42510901 C T SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.1933 p.V645M 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt 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 GRIK5 HGNC ENSG00000105737 tier1 - - 82 0 0.00 112 18 13.85 GPR98 0 genome.wustl.edu 37 5 90077371 90077371 + Missense_Mutation SNP G G C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 5 90077371 90077371 G C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.13207 p.D4403H 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 39 0 0.00 54 7 11.48 TP53 0 genome.wustl.edu 37 17 7578534 7578541 + Frame_Shift_Del DEL CTTGTTGA CTTGTTGA - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 CTTGTTGA CTTGTTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 17 7578534 7578541 CTTGTTGA - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.396_389 p.L130fs 1.000:1.000:1.000:1.000:1.000:1.000:0.961:0.992 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 CISD3 0 genome.wustl.edu 37 17 36890780 36890781 + R INS - - AA TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 17 36890780 36890781 - AA INS CISD3 ENST00000578573 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CISD3 HGNC ENSG00000230055 tier1 10 0 0.00 13 7 35.00 GABRB3 0 genome.wustl.edu 37 15 27184483 27184483 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 15 27184483 27184483 G A SNP GABRB3 ENST00000541819 human ensembl 74_37 -1 putative missense c.101 p.A34V 0.000 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 tier1 - - 34 0 0.00 6 45 88.24 OTOGL 0 genome.wustl.edu 37 12 80672018 80672018 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 12 80672018 80672018 C T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.2725 p.L909F 0.965 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 47 0 0.00 39 7 15.22 DIEXF 0 genome.wustl.edu 37 1 210010164 210010164 + Missense_Mutation SNP C C G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 210010164 210010164 C G SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known missense c.670 p.L224V 0.932 NULL pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 tier1 - - 59 0 0.00 13 25 65.79 KRTAP5-5 0 genome.wustl.edu 37 11 1651203 1651210 + Frame_Shift_Del DEL TGTGGGGG TGTGGGGG - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 TGTGGGGG TGTGGGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 11 1651203 1651210 TGTGGGGG - DEL KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known frame_shift_del c.133_140 p.C45fs 0.207:0.218:0.194:0.182:0.193:0.208:0.406:0.818 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 SYCP2 0 genome.wustl.edu 37 20 58467461 58467461 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 20 58467461 58467461 G A SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.1948 p.L650F 0.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 45 0 0.00 78 8 9.20 EXOSC3 0 genome.wustl.edu 37 9 37784919 37784919 + Silent SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 9 37784919 37784919 G A SNP EXOSC3 ENST00000327304 human ensembl 74_37 -1 known silent c.123 p.D41 0.400 NULL NULL - no_errors EXOSC3 HGNC ENSG00000107371 tier1 rs147510873 - 67 0 0.00 75 12 13.79 RCN1 0 genome.wustl.edu 37 11 32125935 32125935 + Missense_Mutation SNP A A T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 11 32125935 32125935 A T SNP RCN1 ENST00000054950 human ensembl 74_37 +1 known missense c.913 p.I305L 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN1 HGNC ENSG00000049449 tier1 - - 41 0 0.00 28 15 34.88 TUBA4B 0 genome.wustl.edu 37 2 220118076 220118077 + R INS - - G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 220118076 220118077 - G INS TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 0.812:0.000 - - - no_errors TUBA4B HGNC ENSG00000243910 tier1 14 0 0.00 11 3 21.43 DCLRE1C 0 genome.wustl.edu 37 10 14950956 14950956 + Silent SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 10 14950956 14950956 G A SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known silent c.1530 p.S510 0.941 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 33 0 0.00 39 6 13.33 ABCB5 0 genome.wustl.edu 37 7 20689758 20689758 + Silent SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 7 20689758 20689758 G A SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative silent c.1320 p.P440 0.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 tier1 - - 36 0 0.00 64 8 11.11 NLRP8 0 genome.wustl.edu 37 19 56466706 56466706 + Missense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 19 56466706 56466706 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1282 p.V428I 0.037 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 30 0 0.00 40 12 23.08 CYP11B1 0 genome.wustl.edu 37 8 143958162 143958162 + Silent SNP A A T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 8 143958162 143958162 A T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known silent c.735 p.S245 0.024 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 - - 63 0 0.00 55 5 8.33 C19orf45 0 genome.wustl.edu 37 19 7570241 7570241 + Missense_Mutation SNP C C A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 19 7570241 7570241 C A SNP C19orf45 ENST00000361664 human ensembl 74_37 +1 known missense c.814 p.H272N 0.635 NULL NULL - no_errors C19orf45 HGNC ENSG00000198723 tier1 - - 54 0 0.00 86 8 8.51 FABP7 0 genome.wustl.edu 37 6 123100984 123100984 + Missense_Mutation SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 6 123100984 123100984 G T SNP FABP7 ENST00000356535 human ensembl 74_37 +1 known missense c.45 p.Q15H 0.994 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP7 HGNC ENSG00000164434 tier1 - - 64 0 0.00 82 13 13.68 TFAP2D 0 genome.wustl.edu 37 6 50683222 50683222 + Missense_Mutation SNP C C G TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 6 50683222 50683222 C G SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.433 p.L145V 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 tier1 - - 78 0 0.00 80 15 15.79 AP4B1 0 genome.wustl.edu 37 1 114438086 114438086 + Missense_Mutation SNP C C A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 1 114438086 114438086 C A SNP AP4B1 ENST00000256658 human ensembl 74_37 -1 known missense c.1821 p.E607D 0.234 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 tier1 - - 35 0 0.00 37 5 11.90 MAP4K1 0 genome.wustl.edu 37 19 39100635 39100635 + Nonsense_Mutation SNP G G A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 19 39100635 39100635 G A SNP MAP4K1 ENST00000591517 human ensembl 74_37 -1 known nonsense c.841 p.R281* 0.005 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 tier1 - - 56 0 0.00 44 42 48.84 CUEDC1 0 genome.wustl.edu 37 17 55940324 55940324 + R DEL T T - TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 17 55940324 55940324 T - DEL CUEDC1 ENST00000577422 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CUEDC1 HGNC ENSG00000180891 tier1 16 0 0.00 20 3 13.04 LRP2 0 genome.wustl.edu 37 2 170134297 170134297 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 170134297 170134297 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.1730 p.R577Q 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 60 0 0.00 29 34 53.97 ZSCAN5B 0 genome.wustl.edu 37 19 56703353 56703353 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 19 56703353 56703353 C T SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known missense c.454 p.A152T 0.001 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 tier1 rs201505305 GMAF=0.0005 54 0 0.00 117 17 12.69 GPR55 0 genome.wustl.edu 37 2 231775043 231775043 + Missense_Mutation SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 231775043 231775043 C T SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.635 p.R212Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 tier1 rs146701433 GMAF=0.0005 33 0 0.00 59 6 9.23 PCF11 0 genome.wustl.edu 37 11 82879708 82879708 + Silent SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 11 82879708 82879708 C T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known silent c.2331 p.S777 1.000 NULL pfam_R_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 tier1 - - 27 0 0.00 25 11 29.73 SNORD3B-2 0 genome.wustl.edu 37 17 18967436 18967436 + R SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 17 18967436 18967436 G T SNP SNORD3B-2 ENST00000364880 human ensembl 74_37 -1 known rna NULL NULL 0.210 - - - no_errors SNORD3B-2 HGNC ENSG00000262074 tier1 - - 11 0 0.00 15 11 42.31 SIGLEC8 0 genome.wustl.edu 37 19 51958862 51958862 + Missense_Mutation SNP G G C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 19 51958862 51958862 G C SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known missense c.861 p.S287R 0.583 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 tier1 - - 46 0 0.00 52 8 13.33 SERTAD2 0 genome.wustl.edu 37 2 64863598 64863598 + Silent SNP G G C TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 2 64863598 64863598 G C SNP SERTAD2 ENST00000313349 human ensembl 74_37 -1 known silent c.408 p.L136 0.997 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD2 HGNC ENSG00000179833 tier1 - - 43 0 0.00 49 5 9.26 ZBTB21 0 genome.wustl.edu 37 21 43412114 43412114 + Silent SNP G G T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 21 43412114 43412114 G T SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known silent c.2091 p.P697 0.019 pfscan_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 ZBTB21 HGNC ENSG00000173276 tier1 - - 53 0 0.00 31 4 11.43 FAT3 0 genome.wustl.edu 37 11 92086926 92086926 + Missense_Mutation SNP T T A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 11 92086926 92086926 T A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.1648 p.S550T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 27 0 0.00 27 5 15.62 EP300 0 genome.wustl.edu 37 22 41513219 41513219 + Silent SNP C C T TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 61cbe535-6a91-4fb0-b28b-ef53c6973ad3 8801eb57-9164-4a96-bdfb-86f9fb5ec828 22 41513219 41513219 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known silent c.123 p.H41 0.905 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 24 0 0.00 36 8 18.18