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 AFAP1L1 0 genome.wustl.edu 37 5 148686978 148686978 + Silent SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 5 148686978 148686978 C T SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known silent c.549 p.D183 0.992 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 82 0 0.00 64 4 5.80 AGPS 0 genome.wustl.edu 37 2 178299090 178299090 + Missense_Mutation SNP A A C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 2 178299090 178299090 A C SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.386 p.K129T 0.994 NULL pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 tier1 - - 102 0 0.00 46 24 34.29 AJAP1 0 genome.wustl.edu 37 1 4772110 4772110 + Silent SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 1 4772110 4772110 G A SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.180 p.P60 0.079 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 tier1 - - 62 0 0.00 53 23 30.26 ANO8 0 genome.wustl.edu 37 19 17440779 17440779 + Missense_Mutation SNP T T C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 19 17440779 17440779 T C SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.1318 p.K440E 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 tier1 - - 140 0 0.00 88 16 15.38 ARHGEF11 0 genome.wustl.edu 37 1 156926309 156926309 + Missense_Mutation SNP A A T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 1 156926309 156926309 A T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.1574 p.I525N 1.000 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 - - 149 0 0.00 104 19 15.32 ATG7 0 genome.wustl.edu 37 3 11382133 11382133 + Missense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 3 11382133 11382133 G A SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.904 p.V302I 0.998 tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 tier1 - - 46 0 0.00 37 5 11.90 ATP5A1 0 genome.wustl.edu 37 18 43667197 43667197 + Missense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 18 43667197 43667197 G A SNP ATP5A1 ENST00000282050 human ensembl 74_37 -1 known missense c.953 p.A318V 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_F1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_F1-cplx_asu - no_errors ATP5A1 HGNC ENSG00000152234 tier1 - - 20 0 0.00 38 11 22.45 BRD1 0 genome.wustl.edu 37 22 50187780 50187780 + Missense_Mutation SNP T T C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 22 50187780 50187780 T C SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.2261 p.K754R 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 tier1 - - 40 0 0.00 42 12 22.22 C2orf49 0 genome.wustl.edu 37 2 105953938 105953939 + Frame_Shift_Ins INS - - C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 2 105953938 105953939 - C INS C2orf49 ENST00000437250 human ensembl 74_37 +1 known frame_shift_ins c.8_9 p.L4fs 0.881:0.072 NULL NULL - no_errors C2orf49 HGNC ENSG00000135974 tier1 8 0 0.00 2 3 60.00 C2orf53 0 genome.wustl.edu 37 2 27361135 27361135 + Silent SNP A A C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 2 27361135 27361135 A C SNP C2orf53 ENST00000335524 human ensembl 74_37 -1 known silent c.63 p.T21 0.000 NULL NULL - no_errors C2orf53 HGNC ENSG00000186143 tier1 - - 50 0 0.00 36 13 26.53 CAND2 0 genome.wustl.edu 37 3 12858315 12858315 + Silent SNP G G T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 3 12858315 12858315 G T SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known silent c.1884 p.L628 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 tier1 - - 143 0 0.00 118 10 7.81 CASKIN2 0 genome.wustl.edu 37 17 73498473 73498473 + Frame_Shift_Del DEL C C - TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 17 73498473 73498473 C - DEL CASKIN2 ENST00000321617 human ensembl 74_37 -1 known frame_shift_del c.2682 p.K896fs 0.012 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 tier1 9 0 0.00 4 2 33.33 CCDC7 0 genome.wustl.edu 37 10 32833351 32833352 + RNA DEL TC TC - TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 10 32833351 32833352 TC - DEL CCDC7 ENST00000471905 human ensembl 74_37 +1 known rna NULL NULL 0.013:0.015 - - - no_errors CCDC7 HGNC ENSG00000216937 tier1 43 0 0.00 20 3 13.04 CHDH 0 genome.wustl.edu 37 3 53857457 53857457 + Silent SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 3 53857457 53857457 C T SNP CHDH ENST00000315251 human ensembl 74_37 -1 known silent c.579 p.K193 0.792 pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 tier1 - - 10 0 0.00 8 5 38.46 CHFR 0 genome.wustl.edu 37 12 133438210 133438211 + Frame_Shift_Ins INS - - C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 12 133438210 133438211 - C INS CHFR ENST00000266880 human ensembl 74_37 -1 known frame_shift_ins c.630_629 p.G211fs 0.000:0.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 tier1 32 0 0.00 33 2 5.71 DCLRE1A 0 genome.wustl.edu 37 10 115608961 115608961 + Missense_Mutation SNP T T G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 10 115608961 115608961 T G SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.1903 p.K635Q 0.986 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 tier1 - - 135 0 0.00 89 25 21.93 DNAJC13 0 genome.wustl.edu 37 3 132247129 132247129 + Frame_Shift_Del DEL G G - TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 3 132247129 132247129 G - DEL DNAJC13 ENST00000260818 human ensembl 74_37 +1 known frame_shift_del c.6478 p.V2160fs 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 86 0 0.00 66 11 14.29 DOPEY2 0 genome.wustl.edu 37 21 37603428 37603428 + Silent SNP G G T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 21 37603428 37603428 G T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.2346 p.L782 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 41 0 0.00 33 4 10.81 EHD4 0 genome.wustl.edu 37 15 42193248 42193248 + Silent SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 15 42193248 42193248 C T SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known silent c.1221 p.T407 0.927 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 tier1 - - 30 0 0.00 24 8 25.00 EYA4 0 genome.wustl.edu 37 6 133777749 133777749 + Silent SNP G G T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 6 133777749 133777749 G T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known silent c.333 p.T111 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 tier1 - - 219 0 0.00 159 22 12.15 FANCE 0 genome.wustl.edu 37 6 35423873 35423873 + Missense_Mutation SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 6 35423873 35423873 C T SNP FANCE ENST00000229769 human ensembl 74_37 +1 known missense c.598 p.R200C 0.997 NULL pfam_Fanconi_anaemia_gr_E_prot_C - no_errors FANCE HGNC ENSG00000112039 tier1 - - 31 0 0.00 27 4 12.90 IFT52 0 genome.wustl.edu 37 20 42232877 42232877 + Missense_Mutation SNP T T A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 20 42232877 42232877 T A SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known missense c.392 p.V131D 1.000 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 tier1 - - 60 0 0.00 53 6 10.17 KAT6B 0 genome.wustl.edu 37 10 76788867 76788867 + Missense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 10 76788867 76788867 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.4285 p.E1429K 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 tier1 - - 63 0 0.00 54 5 8.33 KCNMB1 0 genome.wustl.edu 37 5 169805759 169805759 + Silent SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 5 169805759 169805759 G A SNP KCNMB1 ENST00000274629 human ensembl 74_37 -1 known silent c.525 p.I175 0.041 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB1 HGNC ENSG00000145936 tier1 - - 105 0 0.00 94 13 12.15 KLHL15 0 genome.wustl.edu 37 X 24007016 24007016 + Silent SNP T T C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a X 24007016 24007016 T C SNP KLHL15 ENST00000328046 human ensembl 74_37 -1 known silent c.837 p.K279 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 tier1 - - 128 0 0.00 97 6 5.77 LGR4 0 genome.wustl.edu 37 11 27405913 27405913 + Missense_Mutation SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 11 27405913 27405913 C T SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.659 p.C220Y 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 tier1 - - 117 0 0.00 102 17 14.29 LRRTM3 0 genome.wustl.edu 37 10 68687759 68687759 + Missense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 10 68687759 68687759 G A SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.1085 p.G362D 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 tier1 rs146764802 - 63 0 0.00 58 10 14.71 MAPK9 0 genome.wustl.edu 37 5 179676123 179676123 + Missense_Mutation SNP T T C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 5 179676123 179676123 T C SNP MAPK9 ENST00000452135 human ensembl 74_37 -1 known missense c.466 p.N156D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 tier1 - - 70 0 0.00 51 8 13.56 MCFD2 0 genome.wustl.edu 37 2 47132596 47132596 + RNA SNP T T G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 2 47132596 47132596 T G SNP MCFD2 ENST00000470873 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MCFD2 HGNC ENSG00000180398 tier1 - - 124 0 0.00 72 24 24.74 MTMR2 0 genome.wustl.edu 37 11 95591781 95591781 + Nonsense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 11 95591781 95591781 G A SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known nonsense c.484 p.R162* 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 tier1 - - 133 0 0.00 93 9 8.82 MYH2 0 genome.wustl.edu 37 17 10442657 10442657 + Silent SNP T T A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 17 10442657 10442657 T A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.1281 p.V427 0.971 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 209 0 0.00 142 33 18.86 MYOM3 0 genome.wustl.edu 37 1 24416585 24416585 + Missense_Mutation SNP T T C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 1 24416585 24416585 T C SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.1459 p.K487E 0.947 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 tier1 - - 53 0 0.00 46 4 8.00 NAV3 0 genome.wustl.edu 37 12 78513022 78513022 + Missense_Mutation SNP A A C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 12 78513022 78513022 A C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.3046 p.T1016P 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 184 0 0.00 148 12 7.50 NAV3 0 genome.wustl.edu 37 12 78530998 78530998 + Missense_Mutation SNP A A G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 12 78530998 78530998 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.4483 p.S1495G 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 81 0 0.00 43 8 15.38 NDUFAF1 0 genome.wustl.edu 37 15 41689014 41689014 + Missense_Mutation SNP A A C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 15 41689014 41689014 A C SNP NDUFAF1 ENST00000260361 human ensembl 74_37 -1 known missense c.244 p.F82V 1.000 NULL pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like - no_errors NDUFAF1 HGNC ENSG00000137806 tier1 - - 233 0 0.00 195 24 10.96 NELL1 0 genome.wustl.edu 37 11 20940835 20940835 + Silent SNP A A G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 11 20940835 20940835 A G SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known silent c.714 p.Q238 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 102 0 0.00 73 7 8.75 NPM1 0 genome.wustl.edu 37 5 170814963 170814963 + Missense_Mutation SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 5 170814963 170814963 C T SNP NPM1 ENST00000296930 human ensembl 74_37 +1 known missense c.11 p.S4L 0.998 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM1 HGNC ENSG00000181163 28 0 0.00 23 3 11.54 NR2F2 0 genome.wustl.edu 37 15 96880682 96880682 + Missense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 15 96880682 96880682 G A SNP NR2F2 ENST00000394166 human ensembl 74_37 +1 known missense c.1076 p.R359K 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 tier1 - - 156 0 0.00 121 19 13.57 OR13F1 0 genome.wustl.edu 37 9 107266644 107266644 + Missense_Mutation SNP T T G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 9 107266644 107266644 T G SNP OR13F1 ENST00000334726 human ensembl 74_37 +1 known missense c.101 p.M34R 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC ENSG00000186881 tier1 - - 129 0 0.00 71 15 17.44 OR2AK2 0 genome.wustl.edu 37 1 248129082 248129082 + Missense_Mutation SNP T T G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 1 248129082 248129082 T G SNP OR2AK2 ENST00000366480 human ensembl 74_37 +1 known missense c.449 p.L150R 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 tier1 - - 194 0 0.00 142 36 20.22 PACRG 0 genome.wustl.edu 37 6 163510296 163510296 + Missense_Mutation SNP T T G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 6 163510296 163510296 T G SNP PACRG ENST00000337019 human ensembl 74_37 +1 known missense c.469 p.L157V 1.000 pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold - no_errors PACRG HGNC ENSG00000112530 tier1 - - 118 0 0.00 92 10 9.80 PCDH9 0 genome.wustl.edu 37 13 66878787 66878787 + Nonstop_Mutation SNP T T G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 13 66878787 66878787 T G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known nonstop c.3714 p.*1238Y 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 70 0 0.00 40 5 11.11 PDE9A 0 genome.wustl.edu 37 21 44195538 44195538 + RNA DEL A A - TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 21 44195538 44195538 A - DEL PDE9A ENST00000460989 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PDE9A HGNC ENSG00000160191 tier1 15 0 0.00 8 3 27.27 PDZRN3 0 genome.wustl.edu 37 3 73433149 73433149 + Silent SNP G G T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 3 73433149 73433149 G T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.2568 p.G856 0.077 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 67 0 0.00 59 8 11.94 PEX5L 0 genome.wustl.edu 37 3 179689385 179689386 + Frame_Shift_Ins INS - - T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 3 179689385 179689386 - T INS PEX5L ENST00000467460 human ensembl 74_37 -1 known frame_shift_ins c.90_89 p.Q31fs 0.999:1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 45 0 0.00 29 2 6.45 PRKAB1 0 genome.wustl.edu 37 12 120110200 120110201 + Frame_Shift_Ins INS - - G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 12 120110200 120110201 0 G INS PRKAB1 ENST00000229328 human ensembl 74_37 +1 known frame_shift_ins c.254_255 p.G88fs 1.000:0.166 superfamily_Ig_E-set pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB1 HGNC ENSG00000111725 188 0 0.00 167 11 6.18 PSG10P 0 genome.wustl.edu 37 19 43358346 43358346 + RNA SNP A A G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 19 43358346 43358346 A G SNP PSG10P ENST00000597171 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PSG10P HGNC ENSG00000248257 tier1 - - 273 0 0.00 197 86 30.39 PTPN3 0 genome.wustl.edu 37 9 112182842 112182842 + Missense_Mutation SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 9 112182842 112182842 C T SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.1175 p.R392H 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 tier1 - - 70 0 0.00 66 5 7.04 RAB3D 0 genome.wustl.edu 37 19 11447948 11447948 + Missense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 19 11447948 11447948 G A SNP RAB3D ENST00000222120 human ensembl 74_37 -1 known missense c.128 p.A43V 1.000 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 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 RAB3D HGNC ENSG00000105514 tier1 rs112584280 - 346 0 0.00 208 38 15.45 RHOA 0 genome.wustl.edu 37 3 49412894 49412895 + Frame_Shift_Del DEL CA CA - TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 3 49412894 49412895 CA 0 DEL RHOA ENST00000418115 human ensembl 74_37 -1 known frame_shift_del c.129_128 p.V43fs 1.000:1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 172 0 0.00 124 9 6.77 RSC1A1 0 genome.wustl.edu 37 1 15988209 15988209 + Missense_Mutation SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 1 15988209 15988209 C T SNP RSC1A1 ENST00000345034 human ensembl 74_37 +1 known missense c.1846 p.P616S 1.000 NULL superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 45 0 0.00 54 4 6.90 RTKN 0 genome.wustl.edu 37 2 74656040 74656040 + Missense_Mutation SNP G G T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 2 74656040 74656040 G T SNP RTKN ENST00000272430 human ensembl 74_37 -1 known missense c.785 p.T262N 1.000 NULL pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 tier1 - - 37 0 0.00 23 4 14.81 SAFB2 0 genome.wustl.edu 37 19 5587265 5587265 + Missense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 19 5587265 5587265 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known missense c.2851 p.R951C 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 tier1 - - 36 0 0.00 17 6 26.09 SCAF8 0 genome.wustl.edu 37 6 155153260 155153260 + Silent SNP A A T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 6 155153260 155153260 A T SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known silent c.2745 p.L915 0.357 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 tier1 - - 135 0 0.00 86 12 12.24 SEMA3D 0 genome.wustl.edu 37 7 84628742 84628742 + RNA SNP A A C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 7 84628742 84628742 A C SNP SEMA3D ENST00000484038 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 49 0 0.00 46 11 19.30 SHROOM4 0 genome.wustl.edu 37 X 50377313 50377313 + Missense_Mutation SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a X 50377313 50377313 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.1760 p.R587H 0.991 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 tier1 - - 37 0 0.00 23 10 30.30 SLFN13 0 genome.wustl.edu 37 17 33771769 33771769 + Missense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 17 33771769 33771769 G A SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.931 p.L311F 0.062 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 tier1 - - 159 0 0.00 124 9 6.77 SURF2 0 genome.wustl.edu 37 9 136226880 136226882 + In_Frame_Del DEL GGA GGA - TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 9 136226880 136226882 GGA - DEL SURF2 ENST00000371964 human ensembl 74_37 +1 known in_frame_del c.392_394 p.R135in_frame_del 0.001:0.001:0.000 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC ENSG00000148291 tier1 34 0 0.00 15 3 16.67 SYNPO2L 0 genome.wustl.edu 37 10 75408254 75408254 + Nonsense_Mutation SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 10 75408254 75408254 G A SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known nonsense c.1156 p.R386* 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 tier1 - - 80 0 0.00 70 15 17.65 TCEB3B 0 genome.wustl.edu 37 18 44559962 44559962 + Silent SNP A A G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 18 44559962 44559962 A G SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.1674 p.V558 0.087 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 55 0 0.00 53 11 17.19 TMCO1 0 genome.wustl.edu 37 1 165738072 165738072 + Missense_Mutation SNP A A G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 1 165738072 165738072 A G SNP TMCO1 ENST00000367881 human ensembl 74_37 -1 known missense c.70 p.Y24H 0.000 NULL pfam_DUF106_TM - no_errors TMCO1 HGNC ENSG00000143183 21 0 0.00 15 2 11.76 TP53 0 genome.wustl.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 17 7578555 7578555 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.376-1 e4-1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 29 0 0.00 31 9 22.50 TUBBP5 0 genome.wustl.edu 37 9 141070981 141070981 + RNA SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 9 141070981 141070981 C T SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 tier1 rs28587432 - 26 0 0.00 21 4 16.00 USP47 0 genome.wustl.edu 37 11 11906086 11906086 + Missense_Mutation SNP C C T TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 11 11906086 11906086 C T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known missense c.376 p.H126Y 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 tier1 - - 134 0 0.00 101 6 5.61 VPS13B 0 genome.wustl.edu 37 8 100479852 100479852 + Missense_Mutation SNP C C G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 8 100479852 100479852 C G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.3656 p.S1219C 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 70 0 0.00 58 13 18.31 WHSC1 0 genome.wustl.edu 37 4 1940249 1940249 + Silent SNP G G A TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 4 1940249 1940249 G A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known silent c.1746 p.K582 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 tier1 - - 43 0 0.00 25 6 19.35 ZKSCAN3 0 genome.wustl.edu 37 6 28333491 28333491 + Missense_Mutation SNP A A G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 6 28333491 28333491 A G SNP ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known missense c.1046 p.K349R 0.994 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 tier1 - - 109 0 0.00 66 10 13.16 ZNF470 0 genome.wustl.edu 37 19 57089069 57089069 + Silent SNP T T C TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 19 57089069 57089069 T C SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known silent c.1272 p.P424 0.289 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 ZNF470 HGNC ENSG00000197016 tier1 - - 73 0 0.00 49 16 24.62 ZNF521 0 genome.wustl.edu 37 18 22804445 22804445 + Missense_Mutation SNP T T G TCGA-VQ-A8PM-01A-21D-A410-08 TCGA-VQ-A8PM-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 29005798-21a7-455a-9a4e-343152592665 c139dc39-0fab-461d-b10e-5add9be7f55a 18 22804445 22804445 T G SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3437 p.K1146T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 67 0 0.00 45 12 21.05