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 VPS13D 0 genome.wustl.edu 37 1 12336133 12336133 + Nonsense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 12336133 12336133 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known nonsense c.2488 p.R830* 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 38 0 0 29 14 32.5581 ENSG00000234978 0 genome.wustl.edu 37 1 142803646 142803646 + RNA SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 142803646 142803646 G A SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 25 0 0 47 9 16.0714 FLG 0 genome.wustl.edu 37 1 152280650 152280650 + Missense_Mutation SNP G G C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 152280650 152280650 G C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6712 p.P2238A 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 293 0 0 259 44 14.5215 TMCO4 0 genome.wustl.edu 37 1 20097941 20097941 + Nonsense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 20097941 20097941 G A SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known nonsense c.214 p.Q72* 1.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 21 0 0 21 18 46.1538 OR2T35 0 genome.wustl.edu 37 1 248801912 248801912 + Silent SNP C C G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 248801912 248801912 C G SNP OR2T35 ENST00000317450 human ensembl 74_37 -1 known silent c.648 p.V216 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T35 HGNC ENSG00000177151 75 0 0 51 4 7.27273 TNFRSF14 0 genome.wustl.edu 37 1 2489866 2489866 + Missense_Mutation SNP A A G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 2489866 2489866 A G SNP TNFRSF14 ENST00000355716 human ensembl 74_37 +1 known missense c.263 p.N88S 0.540 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt - no_errors TNFRSF14 HGNC ENSG00000157873 182 0 0 70 37 34.5794 RHD 0 genome.wustl.edu 37 1 25655489 25655489 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 25655489 25655489 C T SNP RHD ENST00000357542 human ensembl 74_37 +1 putative missense c.1174 p.R392C 0.000 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHD HGNC ENSG00000187010 17 0 0 2 8 80 MUTYH 0 genome.wustl.edu 37 1 45798155 45798155 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 45798155 45798155 G A SNP MUTYH ENST00000470256 human ensembl 74_37 -1 known missense c.499 p.R167W 0.153 NULL NULL - no_errors MUTYH HGNC ENSG00000132781 40 0 0 13 10 43.4783 GTF2B 0 genome.wustl.edu 37 1 89323104 89323104 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 1 89323104 89323104 G A SNP GTF2B ENST00000370500 human ensembl 74_37 -1 known missense c.602 p.A201V 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,prints_TFIIB pfam_TFIIB_cyclin,pfam_Znf_TFIIB,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors GTF2B HGNC ENSG00000137947 33 0 0 32 9 21.9512 CELF2 0 genome.wustl.edu 37 10 11312665 11312665 + Missense_Mutation SNP A A G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 10 11312665 11312665 A G SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known missense c.655 p.T219A 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 72 0 0 36 14 28 CUBN 0 genome.wustl.edu 37 10 17024557 17024557 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 10 17024557 17024557 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.4621 p.R1541W 0.167 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 34 0 0 41 28 40.5797 RHOBTB1 0 genome.wustl.edu 37 10 62631320 62631320 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 10 62631320 62631320 C T SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.2011 p.E671K 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 43 0 0 42 17 28.8136 LRRTM3 0 genome.wustl.edu 37 10 68857598 68857598 + RNA SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 10 68857598 68857598 C T SNP LRRTM3 ENST00000485868 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LRRTM3 HGNC ENSG00000198739 19 0 0 19 9 32.1429 H2AFY2 0 genome.wustl.edu 37 10 71871347 71871347 + Missense_Mutation SNP G G T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 10 71871347 71871347 G T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known missense c.1027 p.A343S 0.165 pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 93 0 0 58 4 6.45161 MARCH5 0 genome.wustl.edu 37 10 94100524 94100524 + Nonsense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 10 94100524 94100524 G A SNP MARCH5 ENST00000358935 human ensembl 74_37 +1 known nonsense c.333 p.W111* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 83 0 0 86 18 17.3077 OR8B4 0 genome.wustl.edu 37 11 124294393 124294393 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 11 124294393 124294393 G A SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known silent c.375 p.I125 0.996 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 55 0 0 34 21 38.1818 FAR1 0 genome.wustl.edu 37 11 13743296 13743296 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 11 13743296 13743296 C T SNP FAR1 ENST00000354817 human ensembl 74_37 +1 known missense c.1147 p.R383C 1.000 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 8 0 0 19 11 36.6667 MRGPRX3 0 genome.wustl.edu 37 11 18159092 18159092 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 11 18159092 18159092 G A SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known missense c.343 p.A115T 0.592 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 164 0 0 81 29 26.3636 FBXO3 0 genome.wustl.edu 37 11 33772191 33772191 + Nonsense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 11 33772191 33772191 C A SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known nonsense c.826 p.E276* 0.995 NULL pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 27 0 0 56 7 11.1111 OR4X1 0 genome.wustl.edu 37 11 48285725 48285725 + Missense_Mutation SNP T T A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 11 48285725 48285725 T A SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known missense c.313 p.F105I 1.000 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 OR4X1 HGNC ENSG00000176567 62 0 0 41 23 35.9375 OR52B6 0 genome.wustl.edu 37 11 5602826 5602826 + Silent SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 11 5602826 5602826 C T SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known silent c.720 p.I240 0.617 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 172 0 0 76 61 44.5255 SSH3 0 genome.wustl.edu 37 11 67075666 67075666 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 11 67075666 67075666 C T SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.907 p.R303C 1.000 pfam_DEK_C pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 110 0 0 42 20 32.2581 UTP20 0 genome.wustl.edu 37 12 101776879 101776879 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 12 101776879 101776879 G A SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.7717 p.D2573N 0.000 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 47 0 0 64 11 14.6667 NAA25 0 genome.wustl.edu 37 12 112485554 112485554 + Missense_Mutation SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 12 112485554 112485554 T C SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.1921 p.R641G 0.999 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 118 1 0.840336 99 67 40.3614 PKP2 0 genome.wustl.edu 37 12 32949048 32949048 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 12 32949048 32949048 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known silent c.2484 p.G828 0.008 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 61 0 0 58 30 34.0909 NR4A1 0 genome.wustl.edu 37 12 52448157 52448157 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 12 52448157 52448157 G A SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known silent c.207 p.P69 1.000 prints_Nuc_orp_HMR_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 76 0 0 34 5 12.8205 MRPL51 0 genome.wustl.edu 37 12 6602054 6602054 + Missense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 12 6602054 6602054 C A SNP MRPL51 ENST00000229238 human ensembl 74_37 -1 known missense c.164 p.G55V 1.000 pfam_Ribosomal_L51_mit pfam_Ribosomal_L51_mit - no_errors MRPL51 HGNC ENSG00000111639 67 0 0 38 24 38.7097 CD163 0 genome.wustl.edu 37 12 7647955 7647955 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 12 7647955 7647955 C T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1142 p.R381H 0.464 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 87 0 0 45 32 41.5584 RTL1 0 genome.wustl.edu 37 14 101348035 101348035 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 14 101348035 101348035 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.3091 p.G1031R 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 11 0 0 3 4 57.1429 TEP1 0 genome.wustl.edu 37 14 20849163 20849163 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 14 20849163 20849163 G A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.4689 p.T1563 0.996 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 39 0 0 32 16 33.3333 SYT16 0 genome.wustl.edu 37 14 62463017 62463017 + Missense_Mutation SNP T T G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 14 62463017 62463017 T G SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known missense c.280 p.C94G 0.015 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 91 0 0 83 82 49.697 SIPA1L1 0 genome.wustl.edu 37 14 72055914 72055914 + Missense_Mutation SNP G G T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 14 72055914 72055914 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1325 p.C442F 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 65 0 0 31 19 38 CEP128 0 genome.wustl.edu 37 14 81382854 81382854 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 14 81382854 81382854 C T SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.38 p.C13Y 0.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 61 0 0 51 31 37.8049 DNM1P46 0 genome.wustl.edu 37 15 100340178 100340178 + RNA SNP C C G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 100340178 100340178 C G SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.937 - - - no_errors DNM1P46 HGNC ENSG00000182397 18 0 0 20 5 20 CHEK2P2 0 genome.wustl.edu 37 15 20496770 20496770 + RNA SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 20496770 20496770 T C SNP CHEK2P2 ENST00000555186 human ensembl 74_37 +1 known rna NULL NULL 0.053 - - - no_errors CHEK2P2 HGNC ENSG00000259156 27 0 0 16 7 30.4348 MKRN3 0 genome.wustl.edu 37 15 23811448 23811448 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 23811448 23811448 G A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known silent c.519 p.S173 0.004 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 45 0 0 23 27 54 NPAP1 0 genome.wustl.edu 37 15 24921169 24921169 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 24921169 24921169 G A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.155 p.R52H 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 47 0 0 14 13 48.1481 HERC2 0 genome.wustl.edu 37 15 28511044 28511044 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 28511044 28511044 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.1675 p.G559R 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens 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 55 0 0 37 19 33.9286 SERINC4 0 genome.wustl.edu 37 15 44087347 44087347 + Missense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 44087347 44087347 C A SNP SERINC4 ENST00000249714 human ensembl 74_37 -1 known missense c.676 p.V226F 0.997 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC4 HGNC ENSG00000184716 74 0 0 43 30 41.0959 FBN1 0 genome.wustl.edu 37 15 48784739 48784739 + Missense_Mutation SNP G G T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 48784739 48784739 G T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.2773 p.L925M 0.030 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 51 0 0 68 50 42.3729 TIPIN 0 genome.wustl.edu 37 15 66671770 66671770 + RNA SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 66671770 66671770 G A SNP TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC ENSG00000075131 19 0 0 32 6 15.7895 TIPIN 0 genome.wustl.edu 37 15 66671784 66671784 + RNA SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 66671784 66671784 G A SNP TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC ENSG00000075131 24 0 0 29 7 19.4444 TIPIN 0 genome.wustl.edu 37 15 66671790 66671790 + RNA SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 66671790 66671790 G A SNP TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC ENSG00000075131 24 0 0 31 7 18.4211 KIAA1024 0 genome.wustl.edu 37 15 79748755 79748755 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 79748755 79748755 C T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.266 p.T89M 0.985 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 62 0 0 55 31 36.0465 PEX11A 0 genome.wustl.edu 37 15 90227164 90227164 + Missense_Mutation SNP T T A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 15 90227164 90227164 T A SNP PEX11A ENST00000300056 human ensembl 74_37 -1 known missense c.188 p.N63I 0.995 pfam_PEX11 pfam_PEX11 - no_errors PEX11A HGNC ENSG00000166821 48 0 0 41 33 44.5946 RRN3P2 0 genome.wustl.edu 37 16 29110458 29110458 + RNA SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 16 29110458 29110458 T C SNP RRN3P2 ENST00000427965 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors RRN3P2 HGNC ENSG00000103472 28 0 0 54 5 8.47458 KCTD13 0 genome.wustl.edu 37 16 29922419 29922419 + Silent SNP G G T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 16 29922419 29922419 G T SNP KCTD13 ENST00000308768 human ensembl 74_37 -1 known silent c.633 p.L211 0.995 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD13 HGNC ENSG00000174943 39 0 0 60 11 15.493 ATP2C2 0 genome.wustl.edu 37 16 84456240 84456240 + Silent SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 16 84456240 84456240 C T SNP ATP2C2 ENST00000262429 human ensembl 74_37 +1 known silent c.780 p.V260 0.032 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 222 0 0 118 30 20.2703 ACSF3 0 genome.wustl.edu 37 16 89180883 89180883 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 16 89180883 89180883 G A SNP ACSF3 ENST00000317447 human ensembl 74_37 +1 known missense c.1114 p.V372M 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 92 0 0 35 5 12.5 INPP5K 0 genome.wustl.edu 37 17 1411489 1411489 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 1411489 1411489 G A SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known missense c.586 p.R196W 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 251 0 0 59 131 68.9474 SARM1 0 genome.wustl.edu 37 17 26711555 26711555 + Missense_Mutation SNP G G C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 26711555 26711555 G C SNP SARM1 ENST00000457710 human ensembl 74_37 +1 novel missense c.1167 p.Q389H 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM - no_errors SARM1 HGNC ENSG00000004139 24 0 0 14 10 41.6667 TMEM132E 0 genome.wustl.edu 37 17 32964419 32964419 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 32964419 32964419 G A SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.2123 p.R708H 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 109 0 0 55 31 36.0465 KRT25 0 genome.wustl.edu 37 17 38906791 38906791 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 38906791 38906791 G A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.1016 p.A339V 0.010 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 219 0 0 131 47 26.4045 CDC27 0 genome.wustl.edu 37 17 45247354 45247354 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 45247354 45247354 G A SNP CDC27 ENST00000533415 human ensembl 74_37 -1 known missense c.158 p.A53V 1.000 NULL NULL - no_errors CDC27 HGNC ENSG00000004897 60 0 0 112 9 7.43802 ABCA10 0 genome.wustl.edu 37 17 67170746 67170746 + Splice_Site SNP A A G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 67170746 67170746 A G SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known splice_site c.3048+2 e22+2 1.000 - - - no_errors ABCA10 HGNC ENSG00000154263 63 0 0 92 21 18.5841 UNC13D 0 genome.wustl.edu 37 17 73827205 73827205 + Missense_Mutation SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 73827205 73827205 T C SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known missense c.2599 p.K867E 0.593 pfam_Munc13_subgr_dom-2 pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 46 0 0 25 3 10.7143 ANKRD30B 0 genome.wustl.edu 37 18 14763786 14763786 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 18 14763786 14763786 C T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.922 p.R308C 0.012 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 37 0 0 51 4 7.27273 DSEL 0 genome.wustl.edu 37 18 65181636 65181636 + Silent SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 18 65181636 65181636 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known silent c.240 p.G80 0.990 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 53 0 0 51 17 25 DCAF15 0 genome.wustl.edu 37 19 14067171 14067171 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 19 14067171 14067171 G A SNP DCAF15 ENST00000254337 human ensembl 74_37 +1 known silent c.621 p.P207 0.008 NULL NULL - no_errors DCAF15 HGNC ENSG00000132017 138 0 0 48 5 9.43396 ANO8 0 genome.wustl.edu 37 19 17435646 17435646 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 19 17435646 17435646 C T SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.3211 p.G1071R 0.982 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 116 0 0 18 31 63.2653 ZNF737 0 genome.wustl.edu 37 19 20728057 20728057 + Missense_Mutation SNP A A G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 19 20728057 20728057 A G SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.952 p.C318R 0.859 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 ZNF737 HGNC ENSG00000237440 21 0 0 19 7 26.9231 MAG 0 genome.wustl.edu 37 19 35791279 35791279 + Missense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 19 35791279 35791279 C A SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.942 p.D314E 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 55 0 0 22 3 12 CYP2F1 0 genome.wustl.edu 37 19 41627868 41627868 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 19 41627868 41627868 G A SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.652 p.D218N 0.998 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 74 0 0 34 3 8.10811 LHB 0 genome.wustl.edu 37 19 49519855 49519855 + Silent SNP T T G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 19 49519855 49519855 T G SNP LHB ENST00000221421 human ensembl 74_37 -1 known silent c.132 p.P44 0.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors LHB HGNC ENSG00000104826 74 0 0 50 5 9.09091 UHRF1 0 genome.wustl.edu 37 19 4954689 4954689 + Splice_Site SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 19 4954689 4954689 G A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.001 - - - no_errors UHRF1 HGNC ENSG00000034063 50 0 0 14 5 26.3158 TPM3P9 0 genome.wustl.edu 37 19 53945909 53945909 + RNA SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 19 53945909 53945909 T C SNP TPM3P9 ENST00000424846 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TPM3P9 HGNC ENSG00000241015 45 0 0 7 7 50 LRP1B 0 genome.wustl.edu 37 2 141092116 141092116 + Nonsense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 141092116 141092116 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.12129 p.W4043* 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 72 0 0 40 13 24.5283 TPO 0 genome.wustl.edu 37 2 1499847 1499847 + Missense_Mutation SNP A A C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 1499847 1499847 A C SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2093 p.N698T 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 37 0 0 21 12 36.3636 EVX2 0 genome.wustl.edu 37 2 176947089 176947089 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 176947089 176947089 G A SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known silent c.516 p.S172 0.929 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 26 0 0 11 9 45 TTN 0 genome.wustl.edu 37 2 179517027 179517027 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 179517027 179517027 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.31873 p.P10625S 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 188 0 0 182 38 17.2727 TTN 0 genome.wustl.edu 37 2 179587262 179587262 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 179587262 179587262 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.18520 p.P6174S 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 65 0 0 65 9 12.1622 PLCL1 0 genome.wustl.edu 37 2 198949883 198949883 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 198949883 198949883 C T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1642 p.P548S 0.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 45 0 0 40 7 14.8936 XRCC5 0 genome.wustl.edu 37 2 216986888 216986888 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 216986888 216986888 G A SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known missense c.595 p.E199K 0.257 pfam_Ku_N,smart_VWF_A pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 47 0 0 40 12 23.0769 STK36 0 genome.wustl.edu 37 2 219564048 219564048 + Missense_Mutation SNP C C G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 219564048 219564048 C G SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.3781 p.Q1261E 0.433 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 72 0 0 65 8 10.9589 HEATR5B 0 genome.wustl.edu 37 2 37295943 37295943 + Missense_Mutation SNP G G T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 37295943 37295943 G T SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.1058 p.S353Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 29 0 0 34 24 41.3793 NRXN1 0 genome.wustl.edu 37 2 50280548 50280548 + Missense_Mutation SNP A A G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 50280548 50280548 A G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3965 p.V1322A 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 84 0 0 75 31 29.2453 ETAA1 0 genome.wustl.edu 37 2 67631114 67631114 + Missense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 67631114 67631114 C A SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.1300 p.P434T 0.010 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 23 0 0 34 20 37.037 CAPG 0 genome.wustl.edu 37 2 85629046 85629046 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 85629046 85629046 C T SNP CAPG ENST00000263867 human ensembl 74_37 -1 known missense c.58 p.G20S 0.988 smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors CAPG HGNC ENSG00000042493 113 0 0 93 34 26.7717 ARID5A 0 genome.wustl.edu 37 2 97215165 97215165 + Silent SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 2 97215165 97215165 C T SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known silent c.228 p.I76 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 80 0 0 33 17 34 SEL1L2 0 genome.wustl.edu 37 20 13830887 13830887 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 20 13830887 13830887 C T SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.1897 p.V633I 1.000 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 60 0 0 65 7 9.72222 CHD6 0 genome.wustl.edu 37 20 40033524 40033524 + Silent SNP A A C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 20 40033524 40033524 A C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.7857 p.P2619 0.998 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,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 CHD6 HGNC ENSG00000124177 57 0 0 59 47 44.3396 NRIP1 0 genome.wustl.edu 37 21 16339457 16339457 + Missense_Mutation SNP T T A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 21 16339457 16339457 T A SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.1057 p.I353F 0.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 61 0 0 91 36 28.3465 ENSG00000161103 0 genome.wustl.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 22 18844763 18844763 T C SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 10 0 0 7 4 36.3636 ENSG00000161103 0 genome.wustl.edu 37 22 18845962 18845962 + RNA SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 22 18845962 18845962 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 24 0 0 21 3 12.5 TBX1 0 genome.wustl.edu 37 22 19751829 19751829 + Silent SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 22 19751829 19751829 C T SNP TBX1 ENST00000329705 human ensembl 74_37 +1 known silent c.664 p.L222 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 110 0 0 49 5 9.25926 SLC5A1 0 genome.wustl.edu 37 22 32498054 32498054 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 22 32498054 32498054 C T SNP SLC5A1 ENST00000266088 human ensembl 74_37 +1 known missense c.1495 p.R499C 0.998 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 57 0 0 25 24 48.9796 SCUBE1 0 genome.wustl.edu 37 22 43610207 43610207 + Missense_Mutation SNP A A G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 22 43610207 43610207 A G SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1942 p.S648P 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 53 0 0 34 5 12.8205 EEFSEC 0 genome.wustl.edu 37 3 128060329 128060329 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 3 128060329 128060329 G A SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.1040 p.R347Q 0.990 superfamily_Transl_elong_EF1A/Init_IF2_C pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 72 0 0 56 4 6.66667 DNAJC13 0 genome.wustl.edu 37 3 132172483 132172483 + Missense_Mutation SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 3 132172483 132172483 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.785 p.L262S 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 73 0 0 74 52 41.2698 PAQR9 0 genome.wustl.edu 37 3 142681730 142681730 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 3 142681730 142681730 C T SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.449 p.R150H 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 33 0 0 14 10 41.6667 CDC25A 0 genome.wustl.edu 37 3 48226154 48226154 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 3 48226154 48226154 G A SNP CDC25A ENST00000302506 human ensembl 74_37 -1 known silent c.279 p.D93 0.957 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 13 0 0 14 17 54.8387 ROBO1 0 genome.wustl.edu 37 3 78680429 78680429 + Missense_Mutation SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 3 78680429 78680429 T C SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.3508 p.R1170G 0.963 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 24 0 0 12 10 45.4545 ROBO1 0 genome.wustl.edu 37 3 78685247 78685247 + Missense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 3 78685247 78685247 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.3049 p.A1017S 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 13 0 0 20 3 13.0435 LARP7 0 genome.wustl.edu 37 4 113568059 113568059 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 4 113568059 113568059 G A SNP LARP7 ENST00000324052 human ensembl 74_37 +1 known missense c.500 p.G167E 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Lupus_La pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 71 0 0 67 33 33 SLBP 0 genome.wustl.edu 37 4 1696506 1696506 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 4 1696506 1696506 C T SNP SLBP ENST00000489418 human ensembl 74_37 -1 known missense c.691 p.D231N 0.455 NULL NULL - no_errors SLBP HGNC ENSG00000163950 77 0 0 120 21 14.8936 SLC25A4 0 genome.wustl.edu 37 4 186067969 186067969 + Silent SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 4 186067969 186067969 C T SNP SLC25A4 ENST00000281456 human ensembl 74_37 +1 known silent c.741 p.A247 0.463 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A4 HGNC ENSG00000151729 39 0 0 24 18 42.8571 HGFAC 0 genome.wustl.edu 37 4 3451109 3451109 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 4 3451109 3451109 G A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.1931 p.R644Q 0.021 pirsf_Coagulation_fac_XIIa/HGFA,superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 65 0 0 33 3 8.33333 SLCO6A1 0 genome.wustl.edu 37 5 101834416 101834416 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 101834416 101834416 C T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.133 p.G45R 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 265 1 0.37594 157 85 35.124 KCNN2 0 genome.wustl.edu 37 5 113740306 113740306 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 113740306 113740306 G A SNP KCNN2 ENST00000264773 human ensembl 74_37 +1 known missense c.754 p.A252T 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 117 0 0 72 52 41.9355 CDC23 0 genome.wustl.edu 37 5 137548983 137548983 + Missense_Mutation SNP T T C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 137548983 137548983 T C SNP CDC23 ENST00000394886 human ensembl 74_37 -1 known missense c.19 p.M7V 0.005 NULL pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC ENSG00000094880 45 0 0 30 15 33.3333 PCDHGA8 0 genome.wustl.edu 37 5 140772559 140772559 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 140772559 140772559 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.179 p.A60V 0.002 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 50 0 0 41 16 28.0702 FTH1P10 0 genome.wustl.edu 37 5 17354528 17354528 + RNA SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 17354528 17354528 G A SNP FTH1P10 ENST00000401830 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors FTH1P10 HGNC ENSG00000223361 19 0 0 29 9 23.6842 FLT4 0 genome.wustl.edu 37 5 180030376 180030376 + Missense_Mutation SNP C C G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 180030376 180030376 C G SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.3908 p.G1303A 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-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_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 17 0 0 16 3 15.7895 PDZD2 0 genome.wustl.edu 37 5 32037440 32037440 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 32037440 32037440 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.1511 p.R504H 0.981 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 16 0 0 11 19 63.3333 PDZD2 0 genome.wustl.edu 37 5 32089087 32089087 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 32089087 32089087 G A SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.5533 p.V1845I 0.046 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 68 0 0 47 50 51.5464 NIPBL 0 genome.wustl.edu 37 5 37020587 37020587 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 37020587 37020587 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.5037 p.Q1679 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 26 0 0 52 5 8.77193 CEP85L 0 genome.wustl.edu 37 6 118953695 118953695 + Silent SNP A A G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 6 118953695 118953695 A G SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known silent c.162 p.N54 0.065 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 53 0 0 35 33 48.5294 HEY2 0 genome.wustl.edu 37 6 126080738 126080738 + Silent SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 6 126080738 126080738 C T SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known silent c.804 p.A268 0.384 prints_Antifreeze_1 pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 459 1 0.217391 198 33 14.2857 STXBP5 0 genome.wustl.edu 37 6 147635091 147635091 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 6 147635091 147635091 C T SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.1217 p.A406V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 42 0 0 51 15 22.7273 HLA-V 0 genome.wustl.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 6 29761676 29761676 C G SNP HLA-V ENST00000457107 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors HLA-V HGNC ENSG00000181126 18 0 0 19 3 13.6364 DNAH8 0 genome.wustl.edu 37 6 38800107 38800107 + Missense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 6 38800107 38800107 C A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.3547 p.Q1183K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 37 0 0 61 4 6.15385 ECI2 0 genome.wustl.edu 37 6 4133892 4133892 + Missense_Mutation SNP G G T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 6 4133892 4133892 G T SNP ECI2 ENST00000380118 human ensembl 74_37 -1 known missense c.104 p.A35E 0.026 NULL pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core_superfam,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ENSG00000198721 59 0 0 84 17 16.8317 SYPL1 0 genome.wustl.edu 37 7 105732297 105732297 + Missense_Mutation SNP G G T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 7 105732297 105732297 G T SNP SYPL1 ENST00000011473 human ensembl 74_37 -1 known missense c.734 p.S245Y 0.032 NULL pfam_Marvel,prints_Synaptophysin/porin - no_errors SYPL1 HGNC ENSG00000008282 31 0 0 50 34 40.4762 GIMAP1 0 genome.wustl.edu 37 7 150417618 150417618 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 7 150417618 150417618 G A SNP GIMAP1 ENST00000307194 human ensembl 74_37 +1 known missense c.526 p.E176K 0.001 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP1 HGNC ENSG00000213203 60 0 0 19 32 62.7451 DNAJB6 0 genome.wustl.edu 37 7 157178324 157178324 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 7 157178324 157178324 G A SNP DNAJB6 ENST00000429029 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB6 HGNC ENSG00000105993 53 0 0 72 5 6.49351 COBL 0 genome.wustl.edu 37 7 51092871 51092871 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 7 51092871 51092871 C T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.3949 p.A1317T 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 126 0 0 52 80 60.6061 DLC1 0 genome.wustl.edu 37 8 12948861 12948861 + Missense_Mutation SNP G G C TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 8 12948861 12948861 G C SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.3821 p.A1274G 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 53 0 0 30 28 48.2759 CLU 0 genome.wustl.edu 37 8 27462602 27462602 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 8 27462602 27462602 G A SNP CLU ENST00000560366 human ensembl 74_37 -1 known missense c.824 p.S275F 0.467 pfam_Clusterin-like,smart_Clusterin_N pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 80 0 0 27 35 56.4516 ZMAT4 0 genome.wustl.edu 37 8 40625170 40625170 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 8 40625170 40625170 C T SNP ZMAT4 ENST00000297737 human ensembl 74_37 -1 known missense c.182 p.R61Q 0.998 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 32 0 0 7 18 72 PXDNL 0 genome.wustl.edu 37 8 52321907 52321907 + Silent SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 8 52321907 52321907 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.2277 p.D759 0.830 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 17 0 0 13 5 27.7778 NBN 0 genome.wustl.edu 37 8 90971067 90971067 + Missense_Mutation SNP G G A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 8 90971067 90971067 G A SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.1010 p.T337I 0.965 pirsf_Nibrin_met pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 70 0 0 339 23 6.35359 MUSK 0 genome.wustl.edu 37 9 113563164 113563164 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 9 113563164 113563164 C T SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.2506 p.R836C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 35 0 0 15 7 31.8182 NOTCH1 0 genome.wustl.edu 37 9 139405667 139405667 + Missense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 9 139405667 139405667 C A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.2524 p.G842W 0.993 pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 67 0 0 46 14 23.3333 KIAA2026 0 genome.wustl.edu 37 9 5922640 5922640 + Missense_Mutation SNP G G T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 9 5922640 5922640 G T SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.3356 p.A1119E 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 67 0 0 57 13 18.5714 DCAF12L1 0 genome.wustl.edu 37 X 125685967 125685967 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea X 125685967 125685967 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.625 p.V209M 0.615 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 36 0 0 14 21 60 BCORL1 0 genome.wustl.edu 37 X 129190051 129190051 + Silent SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea X 129190051 129190051 C T SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known silent c.5298 p.Y1766 0.784 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 33 0 0 27 7 20.5882 MAP3K15 0 genome.wustl.edu 37 X 19475123 19475123 + Missense_Mutation SNP C C A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea X 19475123 19475123 C A SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.903 p.M301I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 11 0 0 10 11 52.381 MAOA 0 genome.wustl.edu 37 X 43603414 43603414 + Missense_Mutation SNP C C T TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea X 43603414 43603414 C T SNP MAOA ENST00000338702 human ensembl 74_37 +1 known missense c.1433 p.S478L 0.035 prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 26 0 0 16 2 11.1111 DIP2C 0 genome.wustl.edu 37 10 412274 412275 + Frame_Shift_Del DEL CA CA - TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 10 412274 412275 CA - DEL DIP2C ENST00000280886 human ensembl 74_37 -1 known frame_shift_del c.2209_2208 p.A737fs 0.993:0.946 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 34 0 0 21 3 12.5 HECTD2 0 genome.wustl.edu 37 10 93247480 93247481 + Frame_Shift_Ins INS - - A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 10 93247480 93247481 - A INS HECTD2 ENST00000446394 human ensembl 74_37 +1 known frame_shift_ins c.1148_1149 p.I386fs 1.000:1.000 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 44 0 0 60 17 22.0779 STARD10 0 genome.wustl.edu 37 11 72465974 72465982 + In_Frame_Del DEL CGCCGCCCG CGCCGCCCG - TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 CGCCGCCCG CGCCGCCCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 11 72465974 72465982 CGCCGCCCG - DEL STARD10 ENST00000334805 human ensembl 74_37 -1 known in_frame_del c.844_836 p.AGG279in_frame_del 1.000:0.997:0.998:0.994:0.020:0.260:0.258:0.013:0.524 NULL pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors STARD10 HGNC ENSG00000214530 33 0 0 14 6 30 TP53 0 genome.wustl.edu 37 17 7578382 7578399 + In_Frame_Del DEL GAGCAGCGCTCATGGTGG GAGCAGCGCTCATGGTGG - TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 GAGCAGCGCTCATGGTGG GAGCAGCGCTCATGGTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 7578382 7578399 GAGCAGCGCTCATGGTGG - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_del c.548_531 p.HHERCS178in_frame_del 0.011:0.015:0.747:0.961:0.972:0.971:0.997:1.000:1.000:1.000:0.999:0.699:1.000:1.000:1.000:1.000:1.000:1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 76 0 0 21 9 30 LGALS3BP 0 genome.wustl.edu 37 17 76972185 76972185 + Frame_Shift_Del DEL G G - TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 17 76972185 76972185 G - DEL LGALS3BP ENST00000262776 human ensembl 74_37 -1 known frame_shift_del c.106 p.R36fs 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR - no_errors LGALS3BP HGNC ENSG00000108679 18 0 0 4 4 50 G3BP1 0 genome.wustl.edu 37 5 151178856 151178857 + Frame_Shift_Ins INS - - A TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 5 151178856 151178857 - A INS G3BP1 ENST00000356245 human ensembl 74_37 +1 known frame_shift_ins c.825_826 p.V276fs 1.000:1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 34 0 0 34 14 29.1667 SYNCRIP 0 genome.wustl.edu 37 6 86350006 86350007 + In_Frame_Ins INS - - TGT TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 6 86350006 86350007 - TGT INS SYNCRIP ENST00000369622 human ensembl 74_37 -1 known in_frame_ins c.308_307 p.103in_frame_insN 1.000:1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 65 0 0 93 20 17.6991 HOXA-AS2 0 genome.wustl.edu 37 7 27147452 27147454 + RNA DEL AAA AAA - TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 7 27147452 27147454 AAA - DEL HOXA-AS2 ENST00000518088 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000 - - - no_errors HOXA-AS2 HGNC ENSG00000253552 18 0 0 21 10 32.2581 NOD1 0 genome.wustl.edu 37 7 30492600 30492603 + Frame_Shift_Del DEL GCAC GCAC - TCGA-CD-A486-01A-11D-A24D-08 TCGA-CD-A486-10A-01D-A24F-08 GCAC GCAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 77af2c45-a9b7-4405-a8b7-74145ce9eab8 d81273ea-476b-49af-b15e-12243b90f4ea 7 30492600 30492603 GCAC - DEL NOD1 ENST00000222823 human ensembl 74_37 -1 known frame_shift_del c.433_430 p.V144fs 0.945:0.956:0.964:0.959 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 61 0 0 85 15 15