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 ADAMTS19 171019 genome.wustl.edu 37 5 129037232 129037232 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 5 129037232 129037232 C T SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known missense c.3088 p.R1030C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC AQP7 364 genome.wustl.edu 37 9 33402384 33402385 + RNA INS - - T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 33402384 33402385 - T INS AQP7 ENST00000481906 human ensembl 70_37 -1 known rna NULL NULL 0.005:0.007 - - - no_errors AQP7 HGNC ARMC3 219681 genome.wustl.edu 37 10 23295873 23295873 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 10 23295873 23295873 C G SNP ARMC3 ENST00000298032 human ensembl 70_37 +1 known missense c.1792 p.L598V 0.112 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC AURKAIP1 54998 genome.wustl.edu 37 1 1310233 1310233 + RNA SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 1310233 1310233 G A SNP AURKAIP1 ENST00000496905 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AURKAIP1 HGNC BPIFA1 51297 genome.wustl.edu 37 20 31825677 31825677 + Missense_Mutation SNP G G T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 20 31825677 31825677 G T SNP BPIFA1 ENST00000354297 human ensembl 70_37 +1 known missense c.160 p.A54S 0.909 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC BPTF 2186 genome.wustl.edu 37 17 65888007 65888007 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 17 65888007 65888007 C G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.2290 p.P764A 0.722 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC C1orf43 25912 genome.wustl.edu 37 1 154185146 154185146 + RNA DEL T T - TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 154185146 154185146 T - DEL C1orf43 ENST00000493814 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors C1orf43 HGNC C2CD2 25966 genome.wustl.edu 37 21 43325861 43325861 + Silent SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 21 43325861 43325861 G A SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known silent c.1404 p.V468 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC C2CD2 25966 genome.wustl.edu 37 21 43325882 43325882 + Silent SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 21 43325882 43325882 G A SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known silent c.1383 p.I461 0.328 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC C2CD2 25966 genome.wustl.edu 37 21 43325895 43325895 + Missense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 21 43325895 43325895 G A SNP C2CD2 ENST00000380486 human ensembl 70_37 -1 known missense c.1370 p.S457F 0.932 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors C2CD2 HGNC C3orf67 200844 genome.wustl.edu 37 3 58849304 58849304 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 3 58849304 58849304 C T SNP C3orf67 ENST00000482387 human ensembl 70_37 -1 known missense c.1198 p.G400S 0.028 NULL NULL - no_errors C3orf67 HGNC CACNA1B 774 genome.wustl.edu 37 9 140901276 140901276 + Missense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 140901276 140901276 G A SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.2035 p.G679S 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC CNOT1 23019 genome.wustl.edu 37 16 58622718 58622718 + Silent SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 16 58622718 58622718 G C SNP CNOT1 ENST00000317147 human ensembl 70_37 -1 known silent c.195 p.G65 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC COL7A1 1294 genome.wustl.edu 37 3 48626419 48626419 + Missense_Mutation SNP G G T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 3 48626419 48626419 G T SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.2324 p.P775H 0.857 pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC CPSF3L 54973 genome.wustl.edu 37 1 1255873 1255873 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 1255873 1255873 C T SNP CPSF3L ENST00000540437 human ensembl 70_37 -1 known missense c.181 p.G61S 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC DEDD 9191 genome.wustl.edu 37 1 161091814 161091815 + RNA INS - - A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 161091814 161091815 - A INS DEDD ENST00000486041 human ensembl 70_37 -1 known rna NULL NULL 0.993:1.000 - - - no_errors DEDD HGNC DOLK 22845 genome.wustl.edu 37 9 131708402 131708402 + Missense_Mutation SNP A A T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 131708402 131708402 A T SNP DOLK ENST00000372586 human ensembl 70_37 -1 known missense c.1181 p.L394H 1.000 NULL NULL - no_errors DOLK HGNC DYRK4 8798 genome.wustl.edu 37 12 4682315 4682315 + RNA SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 12 4682315 4682315 G C SNP DYRK4 ENST00000539490 human ensembl 70_37 +1 known rna NULL NULL 0.041 - - - no_errors DYRK4 HGNC ENSG00000228434 0 genome.wustl.edu 37 7 44043737 44043737 + RNA SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 7 44043737 44043737 C T SNP ENSG00000228434 ENST00000447643 human ensembl 70_37 -1 known rna NULL NULL 0.072 - - - no_errors AC004951.6 Clone_based_vega_gene ENSG00000264771 0 genome.wustl.edu 37 15 99797869 99797869 + RNA SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 15 99797869 99797869 G A SNP ENSG00000264771 ENST00000581052 human ensembl 70_37 +1 novel rna NULL NULL 0.637 - - - no_errors AC022819.1 Clone_based_ensembl_gene ENSG00000267848 0 genome.wustl.edu 37 20 62585129 62585129 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 20 62585129 62585129 C T SNP ENSG00000267848 ENST00000595604 human ensembl 70_37 +1 known silent c.123 p.C41 0.000 NULL NULL - no_errors AL118506.1 Clone_based_ensembl_gene GSN 2934 genome.wustl.edu 37 9 124074856 124074857 + RNA INS - - A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 124074856 124074857 - A INS GSN ENST00000485767 human ensembl 70_37 +1 known rna NULL NULL 0.003:0.000 - - - no_errors GSN HGNC HNRNPR 10236 genome.wustl.edu 37 1 23640111 23640111 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 23640111 23640111 C T SNP HNRNPR ENST00000374616 human ensembl 70_37 -1 known missense c.1111 p.E371K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC HRC 3270 genome.wustl.edu 37 19 49656716 49656716 + Missense_Mutation SNP C C A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 19 49656716 49656716 C A SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1779 p.R593S 0.084 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC HRC 3270 genome.wustl.edu 37 19 49657150 49657150 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 19 49657150 49657150 C G SNP HRC ENST00000252825 human ensembl 70_37 -1 known missense c.1345 p.E449Q 0.123 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC IARS 3376 genome.wustl.edu 37 9 95002909 95002909 + RNA SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 95002909 95002909 C G SNP IARS ENST00000474340 human ensembl 70_37 -1 known rna NULL NULL 0.219 - - - no_errors IARS HGNC IBA57 200205 genome.wustl.edu 37 1 228363051 228363051 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 228363051 228363051 C T SNP IBA57 ENST00000366711 human ensembl 70_37 +1 known missense c.908 p.S303L 0.007 pfam_GCV_T_C pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS - no_errors IBA57 HGNC IL12RB2 3595 genome.wustl.edu 37 1 67861460 67861460 + Silent SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 67861460 67861460 G A SNP IL12RB2 ENST00000262345 human ensembl 70_37 +1 known silent c.2277 p.E759 0.055 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC KIAA1324 57535 genome.wustl.edu 37 1 109707183 109707183 + Missense_Mutation SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 109707183 109707183 G C SNP KIAA1324 ENST00000369939 human ensembl 70_37 +1 known missense c.337 p.E113Q 0.993 superfamily_Growth_fac_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt - no_errors KIAA1324 HGNC LOC100131825 100131825 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene LOC642633 642633 genome.wustl.edu 37 22 21538079 21538079 + RNA SNP A A G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 22 21538079 21538079 A G SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors KB-1183D5.11 Clone_based_vega_gene LOC729444 729444 genome.wustl.edu 37 22 20342166 20342166 + RNA SNP T T C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 22 20342166 20342166 T C SNP LOC729444 ENST00000454636 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene LRP12 29967 genome.wustl.edu 37 8 105502451 105502452 + RNA INS - - T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 8 105502451 105502452 - T INS LRP12 ENST00000518375 human ensembl 70_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors LRP12 HGNC LTN1 26046 genome.wustl.edu 37 21 30357145 30357145 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 21 30357145 30357145 C T SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.444 p.M148I 1.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC LY96 23643 genome.wustl.edu 37 8 74939045 74939045 + Missense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 8 74939045 74939045 C T SNP LY96 ENST00000284818 human ensembl 70_37 +1 known missense c.353 p.S118L 0.014 pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY96 HGNC NTNG2 84628 genome.wustl.edu 37 9 135102404 135102404 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 135102404 135102404 C T SNP NTNG2 ENST00000360670 human ensembl 70_37 +1 known silent c.1026 p.N342 0.963 smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC OPA1-AS1 100873941 genome.wustl.edu 37 3 193336468 193336469 + RNA INS - - T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 3 193336468 193336469 - T INS OPA1-AS1 ENST00000433105 human ensembl 70_37 -1 known rna NULL NULL 0.012:0.000 - - - no_errors OPA1-AS1 HGNC PANX3 116337 genome.wustl.edu 37 11 124489214 124489214 + Missense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 11 124489214 124489214 G A SNP PANX3 ENST00000284288 human ensembl 70_37 +1 known missense c.562 p.E188K 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC PIM2 11040 genome.wustl.edu 37 X 48772318 48772318 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c X 48772318 48772318 C G SNP PIM2 ENST00000376509 human ensembl 70_37 -1 known missense c.574 p.E192Q 0.997 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors PIM2 HGNC PNLIPRP2 5408 genome.wustl.edu 37 10 118404588 118404588 + Nonsense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 10 118404588 118404588 C T SNP PNLIPRP2 ENST00000537242 human ensembl 70_37 +1 known nonsense c.1387 p.Q463* 0.391 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP2 HGNC PPP1R21 129285 genome.wustl.edu 37 2 48725635 48725635 + Nonsense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 2 48725635 48725635 C T SNP PPP1R21 ENST00000294952 human ensembl 70_37 +1 known nonsense c.1696 p.Q566* 1.000 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin/RNR-like - no_errors PPP1R21 HGNC PRDM9 56979 genome.wustl.edu 37 5 23526850 23526850 + Silent SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 5 23526850 23526850 C G SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known silent c.1653 p.L551 0.733 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC PTPRD 5789 genome.wustl.edu 37 9 8486257 8486257 + Nonsense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 8486257 8486257 G A SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known nonsense c.2560 p.Q854* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC SEC14L1 6397 genome.wustl.edu 37 17 75186956 75186956 + Missense_Mutation SNP C C G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 17 75186956 75186956 C G SNP SEC14L1 ENST00000392476 human ensembl 70_37 +1 known missense c.135 p.F45L 0.045 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC SGSM1 129049 genome.wustl.edu 37 22 25282579 25282579 + Nonsense_Mutation SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 22 25282579 25282579 C T SNP SGSM1 ENST00000400359 human ensembl 70_37 +1 known nonsense c.1819 p.Q607* 0.999 superfamily_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC SPATA31D5P 347127 genome.wustl.edu 37 9 84532425 84532425 + RNA SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 9 84532425 84532425 G C SNP SPATA31D5P ENST00000527857 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors SPATA31D5P HGNC SPEN 23013 genome.wustl.edu 37 1 16262320 16262320 + Silent SNP G G C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 16262320 16262320 G C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known silent c.9585 p.V3195 0.789 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPEN 23013 genome.wustl.edu 37 1 16262663 16262663 + Missense_Mutation SNP G G A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 16262663 16262663 G A SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.9928 p.D3310N 0.970 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC STRIP1 85369 genome.wustl.edu 37 1 110580706 110580706 + RNA SNP A A G TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 1 110580706 110580706 A G SNP STRIP1 ENST00000489059 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors STRIP1 HGNC TERT 7015 genome.wustl.edu 37 5 1293768 1293768 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 5 1293768 1293768 C T SNP TERT ENST00000310581 human ensembl 70_37 -1 known silent c.1233 p.T411 0.002 NULL pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT - no_errors TERT HGNC TM7SF3 51768 genome.wustl.edu 37 12 27152716 27152717 + RNA INS - - A TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 12 27152716 27152717 - A INS TM7SF3 ENST00000539399 human ensembl 70_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors TM7SF3 HGNC TTN-AS1 100506866 genome.wustl.edu 37 2 179392071 179392071 + RNA SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 2 179392071 179392071 C T SNP TTN-AS1 ENST00000587576 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors TTN-AS1 HGNC UGT1A6 54578 genome.wustl.edu 37 2 234602059 234602059 + Missense_Mutation SNP A A T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 2 234602059 234602059 A T SNP UGT1A6 ENST00000305139 human ensembl 70_37 +1 known missense c.409 p.N137Y 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC USP32P2 220594 genome.wustl.edu 37 17 18415611 18415611 + RNA SNP A A C TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 17 18415611 18415611 A C SNP USP32P2 ENST00000412260 human ensembl 70_37 -1 known rna NULL NULL 0.146 - - - no_errors USP32P2 HGNC USP43 124739 genome.wustl.edu 37 17 9549282 9549282 + Silent SNP C C T TCGA-UC-A7PD-01A-11D-A351-09 TCGA-UC-A7PD-11A-12D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d689a1c-66ac-4995-82ee-a1d9ea8263b0 2825b631-715e-4dc3-a092-3b9f915e9e0c 17 9549282 9549282 C T SNP USP43 ENST00000285199 human ensembl 70_37 +1 known silent c.333 p.F111 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC