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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCG1 0 genome.wustl.edu 37 21 43645822 43645822 + Silent SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 21 43645822 43645822 G A SNP ABCG1 ENST00000361802 human ensembl 69_37n +1 known silent c.84 p.S28 0.008 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 95 0 0.00 30 29 49.15 - - - ADAMTS20 0 genome.wustl.edu 37 12 43833862 43833862 + Silent SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 12 43833862 43833862 G A SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known silent c.2301 p.D767 0.172 pfam_ADAM_spacer1 pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 62 0 0.00 30 11 26.83 - - - ADARB2 0 genome.wustl.edu 37 10 1279721 1279721 + Silent SNP T T C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 10 1279721 1279721 T C SNP ADARB2 ENST00000381312 human ensembl 69_37n -1 known silent c.1428 p.R476 0.529 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 52 0 0.00 48 11 18.64 - - - ADH5 0 genome.wustl.edu 37 4 100003129 100003129 + Missense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 4 100003129 100003129 C T SNP ADH5 ENST00000296412 human ensembl 69_37n -1 known missense c.253 p.A85T 0.725 pfam_ADH_GroES-like,superfamily_GroES-like,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 116 0 0.00 44 19 30.16 - - - ARID5B 0 genome.wustl.edu 37 10 63759999 63759999 + Missense_Mutation SNP A A T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 10 63759999 63759999 A T SNP ARID5B ENST00000279873 human ensembl 69_37n +1 known missense c.652 p.R218W 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 60 0 0.00 23 12 34.29 - - - C7orf63 0 genome.wustl.edu 37 7 89933315 89933315 + Nonsense_Mutation SNP G G T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 7 89933315 89933315 G T SNP C7orf63 ENST00000389297 human ensembl 69_37n +1 known nonsense c.2083 p.E695* 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 92 0 0.00 35 10 22.22 - - - CACNA1E 0 genome.wustl.edu 37 1 181685255 181685255 + Silent SNP C C A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 181685255 181685255 C A SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known silent c.1305 p.I435 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 79 0 0.00 33 13 28.26 - - - CDAN1 0 genome.wustl.edu 37 15 43025328 43025328 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 15 43025328 43025328 C T SNP CDAN1 ENST00000356231 human ensembl 69_37n -1 known nonsense c.1424 p.W475* 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 85 0 0.00 33 4 10.81 - - - CEP250 0 genome.wustl.edu 37 20 34091216 34091216 + Missense_Mutation SNP G G T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 20 34091216 34091216 G T SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known missense c.5019 p.Q1673H 0.936 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 37 0 0.00 12 35 74.47 - - - CROCCP2 0 genome.wustl.edu 37 1 16949316 16949316 + RNA SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 16949316 16949316 G A SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.121 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0.00 21 6 22.22 - - - DCP1A 0 genome.wustl.edu 37 3 53326791 53326791 + RNA DEL G G - TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 3 53326791 53326791 G - DEL DCP1A ENST00000294241 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DCP1A HGNC ENSG00000162290 44 0 0.00 12 2 14.29 - - - ELL2 0 genome.wustl.edu 37 5 95242412 95242412 + Missense_Mutation SNP T T C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 5 95242412 95242412 T C SNP ELL2 ENST00000237853 human ensembl 69_37n -1 known missense c.556 p.M186V 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 118 0 0.00 30 30 50.00 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 23 0 0.00 26 8 23.53 - - - FCHO1 0 genome.wustl.edu 37 19 17887068 17887068 + Missense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 19 17887068 17887068 C T SNP FCHO1 ENST00000252771 human ensembl 69_37n +1 known missense c.1195 p.R399C 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH - no_errors FCHO1 HGNC ENSG00000130475 90 0 0.00 43 16 26.67 - - - FGF3 0 genome.wustl.edu 37 11 69625283 69625283 + Silent SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 11 69625283 69625283 G A SNP FGF3 ENST00000334134 human ensembl 69_37n -1 known silent c.510 p.R170 0.999 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF3 HGNC ENSG00000186895 20 0 0.00 30 6 16.67 - - - GFPT1 0 genome.wustl.edu 37 2 69569326 69569326 + Missense_Mutation SNP C C G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 2 69569326 69569326 C G SNP GFPT1 ENST00000357308 human ensembl 69_37n -1 known missense c.1161 p.L387F 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 87 0 0.00 36 13 26.53 - - - GSTM4 0 genome.wustl.edu 37 1 110201636 110201636 + Missense_Mutation SNP T T G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 110201636 110201636 T G SNP GSTM4 ENST00000369836 human ensembl 69_37n +1 known missense c.471 p.D157E 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM4 HGNC ENSG00000168765 175 0 0.00 61 16 20.78 - - - GSTM4 0 genome.wustl.edu 37 1 110201637 110201637 + Missense_Mutation SNP T T A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 110201637 110201637 T A SNP GSTM4 ENST00000369836 human ensembl 69_37n +1 known missense c.472 p.F158I 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM4 HGNC ENSG00000168765 175 0 0.00 62 14 18.42 - - - HEATR5A 0 genome.wustl.edu 37 14 31792818 31792818 + Missense_Mutation SNP T T A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 14 31792818 31792818 T A SNP HEATR5A ENST00000389961 human ensembl 69_37n -1 known missense c.3722 p.H1241L 1.000 NULL superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 127 0 0.00 45 16 26.23 - - - HIVEP3 0 genome.wustl.edu 37 1 42049672 42049672 + Missense_Mutation SNP T T C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 42049672 42049672 T C SNP HIVEP3 ENST00000247584 human ensembl 69_37n -1 known missense c.797 p.E266G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 58 0 0.00 23 11 32.35 - - - HSD17B7P2 0 genome.wustl.edu 37 10 38652501 38652501 + RNA SNP A A T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 10 38652501 38652501 A T SNP HSD17B7P2 ENST00000494540 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 97 0 0.00 45 21 31.82 - - - KCNB2 0 genome.wustl.edu 37 8 73848355 73848355 + Silent SNP A A G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 8 73848355 73848355 A G SNP KCNB2 ENST00000523207 human ensembl 69_37n +1 known silent c.765 p.S255 0.921 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 94 0 0.00 88 18 16.82 - - - KIF26B 0 genome.wustl.edu 37 1 245851145 245851145 + Silent SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 245851145 245851145 C T SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known silent c.4860 p.G1620 0.988 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 12 0 0.00 27 7 20.59 - - - KXD1 0 genome.wustl.edu 37 19 18679394 18679394 + Missense_Mutation SNP A A T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 19 18679394 18679394 A T SNP KXD1 ENST00000222307 human ensembl 69_37n +1 known missense c.484 p.I162F 0.462 NULL pfam_Uncharacterised_KxDL - no_errors KXD1 HGNC ENSG00000105700 36 0 0.00 16 11 40.74 - - - LRIG2 0 genome.wustl.edu 37 1 113616189 113616189 + Missense_Mutation SNP T T A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 113616189 113616189 T A SNP LRIG2 ENST00000361127 human ensembl 69_37n +1 known missense c.161 p.L54Q 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRIG2 HGNC ENSG00000198799 32 0 0.00 22 8 26.67 - - - LRRC23 0 genome.wustl.edu 37 12 7014914 7014914 + Missense_Mutation SNP C C A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 12 7014914 7014914 C A SNP LRRC23 ENST00000007969 human ensembl 69_37n +1 known missense c.117 p.F39L 0.000 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 34 0 0.00 20 4 16.67 - - - MAP6 0 genome.wustl.edu 37 11 75298409 75298409 + Missense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 11 75298409 75298409 C T SNP MAP6 ENST00000304771 human ensembl 69_37n -1 known missense c.2137 p.V713M 0.000 NULL pfam_STOP/FAM154 - no_errors MAP6 HGNC ENSG00000171533 125 0 0.00 34 12 26.09 - - - MIR24-1 0 genome.wustl.edu 37 9 97848305 97848305 + RNA SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 9 97848305 97848305 C T SNP MIR24-1 ENST00000384885 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR24-1 HGNC ENSG00000207617 25 0 0.00 21 11 34.38 - - - MTF2 0 genome.wustl.edu 37 1 93602437 93602437 + Silent SNP C C G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 93602437 93602437 C G SNP MTF2 ENST00000370298 human ensembl 69_37n +1 known silent c.1635 p.L545 0.762 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 65 0 0.00 31 11 26.19 - - - MTOR 0 genome.wustl.edu 37 1 11187116 11187116 + Missense_Mutation SNP C C A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 11187116 11187116 C A SNP MTOR ENST00000361445 human ensembl 69_37n -1 known missense c.6302 p.W2101L 1.000 pfam_FKBP_rapamycin-assoc_FKBP12-bd,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 100 0 0.00 27 17 38.64 - - - MYH8 0 genome.wustl.edu 37 17 10298721 10298721 + Missense_Mutation SNP A A T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 17 10298721 10298721 A T SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.4691 p.I1564N 0.980 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 97 0 0.00 16 10 38.46 - - - NDUFV1 0 genome.wustl.edu 37 11 67377893 67377893 + Missense_Mutation SNP G G C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 11 67377893 67377893 G C SNP NDUFV1 ENST00000322776 human ensembl 69_37n +1 known missense c.552 p.K184N 0.974 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 77 0 0.00 52 20 27.78 - - - NINL 0 genome.wustl.edu 37 20 25481635 25481635 + Missense_Mutation SNP C C G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 20 25481635 25481635 C G SNP NINL ENST00000278886 human ensembl 69_37n -1 known missense c.873 p.E291D 0.989 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NINL HGNC ENSG00000101004 32 0 0.00 32 13 28.89 - - - NKPD1 0 genome.wustl.edu 37 19 45662102 45662102 + Silent SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 19 45662102 45662102 G A SNP NKPD1 ENST00000317951 human ensembl 69_37n -1 known silent c.348 p.V116 0.069 NULL pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 14 0 0.00 18 9 33.33 - - - NOMO2 0 genome.wustl.edu 37 16 18544464 18544464 + Missense_Mutation SNP G G T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 16 18544464 18544464 G T SNP NOMO2 ENST00000381474 human ensembl 69_37n -1 known missense c.1258 p.P420T 1.000 NULL pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 140 0 0.00 94 20 17.54 - - - NOP2 0 genome.wustl.edu 37 12 6666267 6666267 + Silent SNP G G C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 12 6666267 6666267 G C SNP NOP2 ENST00000322166 human ensembl 69_37n -1 known silent c.2331 p.P777 0.000 NULL pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 24 0 0.00 22 5 18.52 - - - NUP210 0 genome.wustl.edu 37 3 13364839 13364839 + Missense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 3 13364839 13364839 C T SNP NUP210 ENST00000254508 human ensembl 69_37n -1 known missense c.4738 p.A1580T 0.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 79 0 0.00 36 9 20.00 - - - OR2J1 0 genome.wustl.edu 37 6 29069001 29069001 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 6 29069001 29069001 T - DEL OR2J1 ENST00000377171 human ensembl 69_37n +1 known frame_shift_del c.282 p.Y95fs 0.169 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J1 HGNC ENSG00000204702 67 0 0.00 13 2 13.33 - - - OR5D13 0 genome.wustl.edu 37 11 55541620 55541620 + Missense_Mutation SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 11 55541620 55541620 G A SNP OR5D13 ENST00000361760 human ensembl 69_37n +1 known missense c.707 p.R236H 0.003 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 90 0 0.00 27 17 36.96 - - - OTOF 0 genome.wustl.edu 37 2 26739336 26739336 + Silent SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 2 26739336 26739336 G A SNP OTOF ENST00000272371 human ensembl 69_37n -1 known silent c.459 p.L153 0.839 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 43 0 0.00 23 13 36.11 - - - PCDHA9 0 genome.wustl.edu 37 5 140230345 140230345 + Missense_Mutation SNP G G T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 5 140230345 140230345 G T SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known missense c.2265 p.R755S 0.040 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 33 0 0.00 46 12 20.69 - - - PCDHB11 0 genome.wustl.edu 37 5 140580879 140580879 + Missense_Mutation SNP G G C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 5 140580879 140580879 G C SNP PCDHB11 ENST00000354757 human ensembl 69_37n +1 known missense c.1532 p.G511A 0.975 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 30 0 0.00 29 19 38.78 - - - PCNXL3 0 genome.wustl.edu 37 11 65384797 65384797 + Missense_Mutation SNP G G C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 11 65384797 65384797 G C SNP PCNXL3 ENST00000355703 human ensembl 69_37n +1 known missense c.418 p.V140L 0.992 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 103 0 0.00 48 21 30.43 - - - PDCD6IP 0 genome.wustl.edu 37 3 33895477 33895477 + Frame_Shift_Del DEL T T - TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 3 33895477 33895477 T - DEL PDCD6IP ENST00000457054 human ensembl 69_37n +1 known frame_shift_del c.2012 p.V672fs 1.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 59 0 0.00 18 2 10.00 - - - PDE4DIP 0 genome.wustl.edu 37 1 145075854 145075854 + Silent SNP G G C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 145075854 145075854 G C SNP PDE4DIP ENST00000369348 human ensembl 69_37n -1 known silent c.9 p.G3 0.048 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 11 0 0.00 28 23 45.10 - - - PLCL1 0 genome.wustl.edu 37 2 198950898 198950898 + Missense_Mutation SNP T T A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 2 198950898 198950898 T A SNP PLCL1 ENST00000428675 human ensembl 69_37n +1 known missense c.2657 p.I886N 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCL1 HGNC ENSG00000115896 51 0 0.00 17 6 26.09 - - - PLEC 0 genome.wustl.edu 37 8 145006612 145006612 + Missense_Mutation SNP T T C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 8 145006612 145006612 T C SNP PLEC ENST00000322810 human ensembl 69_37n -1 known missense c.2344 p.S782G 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 32 0 0.00 50 12 19.35 - - - PRKRIR 0 genome.wustl.edu 37 11 76062798 76062798 + Nonsense_Mutation SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 11 76062798 76062798 G A SNP PRKRIR ENST00000260045 human ensembl 69_37n -1 known nonsense c.1396 p.R466* 0.988 superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 37 0 0.00 8 7 46.67 - - - PSMA7 0 genome.wustl.edu 37 20 60714888 60714888 + Missense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 20 60714888 60714888 C T SNP PSMA7 ENST00000442551 human ensembl 69_37n -1 known missense c.74 p.R25K 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PSMA7 HGNC ENSG00000101182 26 0 0.00 48 8 14.29 - - - RAD51C 0 genome.wustl.edu 37 17 56801450 56801450 + Missense_Mutation SNP C C A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 17 56801450 56801450 C A SNP RAD51C ENST00000337432 human ensembl 69_37n +1 known missense c.954 p.D318E 0.980 pfam_DNA_recomb/repair_Rad51_C,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51C HGNC ENSG00000108384 89 0 0.00 46 15 24.59 - - - RHOT1 0 genome.wustl.edu 37 17 30536424 30536424 + Missense_Mutation SNP G G C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 17 30536424 30536424 G C SNP RHOT1 ENST00000358365 human ensembl 69_37n +1 known missense c.1795 p.E599Q 1.000 pirsf_Small_GTPase_Miro pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOT1 HGNC ENSG00000126858 91 0 0.00 36 6 14.29 - - - RNU2-2 0 genome.wustl.edu 37 11 62609178 62609178 + RNA SNP A A G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 11 62609178 62609178 A G SNP RNU2-2 ENST00000410396 human ensembl 69_37n -1 known rna NULL NULL 0.932 - - - no_errors RNU2-2 HGNC ENSG00000222328 23 0 0.00 21 6 22.22 - - - SBNO1 0 genome.wustl.edu 37 12 123798175 123798175 + Missense_Mutation SNP A A T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 12 123798175 123798175 A T SNP SBNO1 ENST00000420886 human ensembl 69_37n -1 known missense c.3212 p.F1071Y 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 71 0 0.00 18 6 25.00 - - - SEC24A 0 genome.wustl.edu 37 5 133997101 133997101 + Silent SNP C C A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 5 133997101 133997101 C A SNP SEC24A ENST00000398844 human ensembl 69_37n +1 known silent c.390 p.A130 0.004 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 90 0 0.00 50 31 38.27 - - - SLC1A3 0 genome.wustl.edu 37 5 36608580 36608580 + Nonsense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 5 36608580 36608580 C T SNP SLC1A3 ENST00000265113 human ensembl 69_37n +1 known nonsense c.55 p.Q19* 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 56 0 0.00 42 11 20.75 - - - SNAPC1 0 genome.wustl.edu 37 14 62235358 62235358 + Missense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 14 62235358 62235358 C T SNP SNAPC1 ENST00000216294 human ensembl 69_37n +1 known missense c.434 p.S145L 1.000 pfam_SNAPc_SNAP43 pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 72 0 0.00 27 7 20.59 - - - SORBS2 0 genome.wustl.edu 37 4 186545132 186545132 + Missense_Mutation SNP T T C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 4 186545132 186545132 T C SNP SORBS2 ENST00000284776 human ensembl 69_37n -1 known missense c.1439 p.Y480C 0.995 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 43 0 0.00 32 9 21.95 - - - SOS2 0 genome.wustl.edu 37 14 50605424 50605424 + Missense_Mutation SNP T T C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 14 50605424 50605424 T C SNP SOS2 ENST00000216373 human ensembl 69_37n -1 known missense c.2864 p.N955S 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 87 0 0.00 25 10 28.57 - - - SPATA18 0 genome.wustl.edu 37 4 52951104 52951104 + Missense_Mutation SNP G G T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 4 52951104 52951104 G T SNP SPATA18 ENST00000295213 human ensembl 69_37n +1 known missense c.1502 p.S501I 0.611 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 76 0 0.00 39 12 23.53 - - - TAF4 0 genome.wustl.edu 37 20 60581738 60581738 + Missense_Mutation SNP G G A TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 20 60581738 60581738 G A SNP TAF4 ENST00000252996 human ensembl 69_37n -1 known missense c.2051 p.P684L 0.494 smart_TAFH_NHR1,pfscan_TAFH_NHR1 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 13 0 0.00 34 10 22.73 - - - TBC1D2 0 genome.wustl.edu 37 9 101006299 101006299 + Silent SNP G G C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 9 101006299 101006299 G C SNP TBC1D2 ENST00000375066 human ensembl 69_37n -1 known silent c.624 p.L208 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 28 0 0.00 21 15 41.67 - - - UBE4B 0 genome.wustl.edu 37 1 10163139 10163139 + Missense_Mutation SNP A A G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 1 10163139 10163139 A G SNP UBE4B ENST00000343090 human ensembl 69_37n +1 known missense c.569 p.N190S 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 66 0 0.00 11 6 35.29 - - - USP53 0 genome.wustl.edu 37 4 120213924 120213924 + Missense_Mutation SNP A A T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 4 120213924 120213924 A T SNP USP53 ENST00000274030 human ensembl 69_37n +1 known missense c.2780 p.K927M 1.000 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC ENSG00000145390 54 0 0.00 19 6 24.00 - - - YIF1B 0 genome.wustl.edu 37 19 38798137 38798137 + Missense_Mutation SNP G G T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 19 38798137 38798137 G T SNP YIF1B ENST00000588002 human ensembl 69_37n -1 known missense c.506 p.A169D 1.000 NULL pfam_Hrf1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region YIF1B HGNC ENSG00000167645 37 0 0.00 36 4 10.00 - - - ZNF518B 0 genome.wustl.edu 37 4 10446040 10446040 + Missense_Mutation SNP G G C TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 4 10446040 10446040 G C SNP ZNF518B ENST00000326756 human ensembl 69_37n -1 known missense c.1913 p.S638C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 76 0 0.00 26 12 31.58 - - - ZNF555 0 genome.wustl.edu 37 19 2852854 2852854 + Missense_Mutation SNP C C G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 19 2852854 2852854 C G SNP ZNF555 ENST00000334241 human ensembl 69_37n +1 known missense c.791 p.A264G 0.992 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 ZNF555 HGNC ENSG00000186300 63 0 0.00 28 10 26.32 - - - ZNF619 0 genome.wustl.edu 37 3 40528692 40528692 + Missense_Mutation SNP C C T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 3 40528692 40528692 C T SNP ZNF619 ENST00000447116 human ensembl 69_37n +1 known missense c.811 p.P271S 1.000 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 ZNF619 HGNC ENSG00000177873 48 0 0.00 11 6 35.29 - - - ZNF658 0 genome.wustl.edu 37 9 40774928 40774928 + Missense_Mutation SNP T T G TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 33ff7870-fa76-4e48-a223-a8e2441d8f53 95048722-2664-4839-9814-dfa4aeb66198 9 40774928 40774928 T G SNP ZNF658 ENST00000377626 human ensembl 69_37n -1 known missense c.347 p.Q116P 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF658 HGNC ENSG00000196409 69 0 0.00 18 4 18.18 - - -