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 AASS 0 genome.wustl.edu 37 7 121741712 121741712 + Missense_Mutation SNP G G A TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 7 121741712 121741712 G A SNP AASS ENST00000393376 human ensembl 69_37n -1 known missense c.1301 p.P434L 1.000 NULL pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 151 0 0.00 151 28 15.64 - - - ACIN1 0 genome.wustl.edu 37 14 23530619 23530619 + Silent SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 14 23530619 23530619 C T SNP ACIN1 ENST00000262710 human ensembl 69_37n -1 known silent c.3486 p.E1162 1.000 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 142 1 0.70 122 20 13.99 - - - AHSA1 0 genome.wustl.edu 37 14 77935581 77935581 + Missense_Mutation SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 14 77935581 77935581 C T SNP AHSA1 ENST00000216479 human ensembl 69_37n +1 known missense c.1006 p.R336C 1.000 NULL pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 205 0 0.00 109 53 32.72 - - - C17orf28 0 genome.wustl.edu 37 17 72951890 72951890 + Missense_Mutation SNP C C G TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 17 72951890 72951890 C G SNP C17orf28 ENST00000425042 human ensembl 69_37n -1 known missense c.1633 p.D545H 1.000 NULL pfam_Dymeclin - no_errors C17orf28 HGNC ENSG00000167861 240 0 0.00 559 123 18.01 - - - C17orf28 0 genome.wustl.edu 37 17 72952020 72952020 + Silent SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 17 72952020 72952020 C T SNP C17orf28 ENST00000425042 human ensembl 69_37n -1 known silent c.1503 p.V501 1.000 pfam_Dymeclin pfam_Dymeclin - no_errors C17orf28 HGNC ENSG00000167861 262 0 0.00 606 127 17.33 - - - C17orf74 0 genome.wustl.edu 37 17 7329370 7329370 + Splice_Site SNP G G C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 17 7329370 7329370 G C SNP C17orf74 ENST00000333870 human ensembl 69_37n +1 known splice_site c.196+1 e2+1 0.927 - - - no_errors C17orf74 HGNC ENSG00000184560 147 0 0.00 84 16 16.00 - - - CNGA3 0 genome.wustl.edu 37 2 99013403 99013403 + Missense_Mutation SNP G G T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 2 99013403 99013403 G T SNP CNGA3 ENST00000272602 human ensembl 69_37n +1 known missense c.1770 p.E590D 0.713 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 115 1 0.86 51 20 28.17 - - - CYB5R4 0 genome.wustl.edu 37 6 84644368 84644368 + Missense_Mutation SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 6 84644368 84644368 C T SNP CYB5R4 ENST00000369681 human ensembl 69_37n +1 known missense c.869 p.T290M 0.998 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Cyt_B5,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_domain,superfamily_Cyt_B5,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Cyt_B5,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5 - no_errors CYB5R4 HGNC ENSG00000065615 450 0 0.00 313 83 20.96 - - - CYP2S1 0 genome.wustl.edu 37 19 41711922 41711922 + Missense_Mutation SNP C C A TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 19 41711922 41711922 C A SNP CYP2S1 ENST00000310054 human ensembl 69_37n +1 known missense c.1224 p.H408Q 0.012 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 256 0 0.00 181 51 21.70 - - - DEFB129 0 genome.wustl.edu 37 20 210400 210402 + In_Frame_Del DEL AGA AGA - TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 20 210400 210402 AGA - DEL DEFB129 ENST00000246105 human ensembl 69_37n +1 known in_frame_del c.540_542 p.E182in_frame_del 0.002:0.000:0.000 NULL NULL - no_errors DEFB129 HGNC ENSG00000125903 511 0 0.00 320 101 23.93 - - - DUSP10 0 genome.wustl.edu 37 1 221912365 221912365 + Missense_Mutation SNP T T C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 1 221912365 221912365 T C SNP DUSP10 ENST00000366899 human ensembl 69_37n -1 known missense c.722 p.N241S 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 245 0 0.00 213 92 30.16 - - - EMR2 0 genome.wustl.edu 37 19 14863285 14863285 + Missense_Mutation SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 19 14863285 14863285 C T SNP EMR2 ENST00000392962 human ensembl 69_37n -1 known missense c.1099 p.A367T 0.997 NULL pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,prints_GPCR_2_CD97 - no_errors EMR2 HGNC ENSG00000127507 296 0 0.00 151 79 34.35 - - - FOXN3 0 genome.wustl.edu 37 14 89878525 89878525 + Missense_Mutation SNP G G A TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 14 89878525 89878525 G A SNP FOXN3 ENST00000261302 human ensembl 69_37n -1 known missense c.296 p.A99V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 101 0 0.00 67 18 21.18 - - - GATA3 0 genome.wustl.edu 37 10 8115952 8115953 + Frame_Shift_Ins INS - - C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 10 8115952 8115953 - C INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1301_1302 p.H435fs 1.000:0.946 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 159 0 0.00 103 13 11.21 - - - HCFC1 0 genome.wustl.edu 37 X 153215007 153215007 + Missense_Mutation SNP T T C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 X 153215007 153215007 T C SNP HCFC1 ENST00000310441 human ensembl 69_37n -1 known missense c.6065 p.E2022G 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 337 0 0.00 204 101 33.01 - - - IL20RB 0 genome.wustl.edu 37 3 136699172 136699172 + Splice_Site SNP G G A TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 3 136699172 136699172 G A SNP IL20RB ENST00000309741 human ensembl 69_37n +1 known splice_site c.1-1 e1-1 0.001 - - - no_errors IL20RB HGNC ENSG00000174564 67 0 0.00 59 21 25.93 - - - KIAA1024 0 genome.wustl.edu 37 15 79749073 79749073 + Missense_Mutation SNP T T C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 15 79749073 79749073 T C SNP KIAA1024 ENST00000305428 human ensembl 69_37n +1 known missense c.584 p.L195S 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 110 0 0.00 77 31 28.70 - - - KIF19 0 genome.wustl.edu 37 17 72350926 72350926 + Silent SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 17 72350926 72350926 C T SNP KIF19 ENST00000389916 human ensembl 69_37n +1 known silent c.2712 p.S904 0.054 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 169 0 0.00 415 60 12.63 - - - KLK4 0 genome.wustl.edu 37 19 51410279 51410279 + Missense_Mutation SNP C C A TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 19 51410279 51410279 C A SNP KLK4 ENST00000324041 human ensembl 69_37n -1 known missense c.676 p.A226S 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 146 0 0.00 98 26 20.80 - - - LMTK2 0 genome.wustl.edu 37 7 97823713 97823713 + Silent SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 7 97823713 97823713 C T SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known silent c.3936 p.D1312 0.373 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 126 0 0.00 57 26 31.33 - - - MRPL38 0 genome.wustl.edu 37 17 73898161 73898161 + Missense_Mutation SNP G G C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 17 73898161 73898161 G C SNP MRPL38 ENST00000309352 human ensembl 69_37n -1 known missense c.322 p.Q108E 0.029 NULL pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors MRPL38 HGNC ENSG00000204316 376 0 0.00 267 105 28.23 - - - MTERFD3 0 genome.wustl.edu 37 12 107371529 107371529 + Missense_Mutation SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 12 107371529 107371529 C T SNP MTERFD3 ENST00000240050 human ensembl 69_37n -1 known missense c.964 p.V322I 1.000 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD3 HGNC ENSG00000120832 433 0 0.00 398 139 25.88 - - - NCKAP5 0 genome.wustl.edu 37 2 133539971 133539971 + Silent SNP T T C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 2 133539971 133539971 T C SNP NCKAP5 ENST00000317721 human ensembl 69_37n -1 known silent c.4413 p.T1471 0.969 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 244 0 0.00 141 50 26.18 - - - OR7A5 0 genome.wustl.edu 37 19 14938267 14938267 + Missense_Mutation SNP C C A TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 19 14938267 14938267 C A SNP OR7A5 ENST00000322301 human ensembl 69_37n -1 known missense c.787 p.A263S 0.020 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7A5 HGNC ENSG00000188269 285 0 0.00 203 62 23.40 - - - OXA1L 0 genome.wustl.edu 37 14 23239475 23239475 + Silent SNP C C G TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 14 23239475 23239475 C G SNP OXA1L ENST00000285848 human ensembl 69_37n +1 known silent c.837 p.L279 0.951 pfam_Membrane_insertion_OxaA/YidC,tigrfam_Membrane_insertion_OxaA/YidC pfam_Membrane_insertion_OxaA/YidC,tigrfam_Membrane_insertion_OxaA/YidC - no_errors OXA1L HGNC ENSG00000155463 226 0 0.00 169 61 26.41 - - - PHC2 0 genome.wustl.edu 37 1 33795722 33795722 + Missense_Mutation SNP G G A TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 1 33795722 33795722 G A SNP PHC2 ENST00000419414 human ensembl 69_37n -1 known missense c.2098 p.R700W 0.979 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 481 0 0.00 282 52 15.48 - - - PITPNM1 0 genome.wustl.edu 37 11 67261512 67261512 + Silent SNP C C A TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 11 67261512 67261512 C A SNP PITPNM1 ENST00000356404 human ensembl 69_37n -1 known silent c.2889 p.L963 0.996 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 59 0 0.00 33 7 17.50 - - - POTEA 0 genome.wustl.edu 37 8 43152259 43152259 + RNA SNP G G T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 8 43152259 43152259 G T SNP POTEA ENST00000522175 human ensembl 69_37n +1 known rna NULL NULL 0.996 - - - no_errors POTEA HGNC ENSG00000188877 594 0 0.00 350 174 32.95 - - - RAPGEF4 0 genome.wustl.edu 37 2 173825508 173825508 + Silent SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 2 173825508 173825508 C T SNP RAPGEF4 ENST00000397081 human ensembl 69_37n +1 known silent c.558 p.H186 1.000 NULL pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 381 1 0.26 264 47 15.11 - - - RBM19 0 genome.wustl.edu 37 12 114296632 114296632 + Missense_Mutation SNP G G T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 12 114296632 114296632 G T SNP RBM19 ENST00000261741 human ensembl 69_37n -1 known missense c.2628 p.F876L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 300 1 0.33 234 89 27.47 - - - SERPINE1 0 genome.wustl.edu 37 7 100777176 100777176 + Splice_Site SNP T T C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 7 100777176 100777176 T C SNP SERPINE1 ENST00000223095 human ensembl 69_37n +1 known splice_site c.899+2 e4+2 1.000 - - - no_errors SERPINE1 HGNC ENSG00000106366 145 0 0.00 89 34 27.20 - - - TCF7L2 0 genome.wustl.edu 37 10 114910812 114910812 + Missense_Mutation SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 10 114910812 114910812 C T SNP TCF7L2 ENST00000355995 human ensembl 69_37n +1 known missense c.931 p.H311Y 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 360 0 0.00 213 57 21.03 - - - TMA16 0 genome.wustl.edu 37 4 164428259 164428259 + Missense_Mutation SNP A A T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 4 164428259 164428259 A T SNP TMA16 ENST00000358572 human ensembl 69_37n +1 known missense c.78 p.Q26H 0.997 pfam_DUF2962 pfam_DUF2962 - no_errors TMA16 HGNC ENSG00000198498 346 0 0.00 228 51 18.21 - - - TMEM246 0 genome.wustl.edu 37 9 104238875 104238875 + Missense_Mutation SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 9 104238875 104238875 C T SNP TMEM246 ENST00000374847 human ensembl 69_37n -1 known missense c.500 p.R167H 1.000 NULL NULL - no_errors TMEM246 HGNC ENSG00000165152 117 0 0.00 86 30 25.86 - - - TMEM59 0 genome.wustl.edu 37 1 54509100 54509100 + Silent SNP G G C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 1 54509100 54509100 G C SNP TMEM59 ENST00000234831 human ensembl 69_37n -1 known silent c.489 p.T163 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 172 0 0.00 123 24 16.33 - - - VPS33B 0 genome.wustl.edu 37 15 91551102 91551102 + Missense_Mutation SNP G G C TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 15 91551102 91551102 G C SNP VPS33B ENST00000333371 human ensembl 69_37n -1 known missense c.496 p.L166V 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 248 0 0.00 179 25 12.25 - - - XPO6 0 genome.wustl.edu 37 16 28167638 28167638 + Missense_Mutation SNP C C T TCGA-C8-A1HI-01A-11D-A135-09 TCGA-C8-A1HI-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75dc3bff-75da-4734-b930-a18fd3d1ebfe 6944644c-a43b-4a5b-b506-7427227f3eb0 16 28167638 28167638 C T SNP XPO6 ENST00000304658 human ensembl 69_37n -1 known missense c.854 p.R285Q 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 279 0 0.00 184 185 49.87 - - -