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 ANKRD36B 0 genome.wustl.edu 37 2 98165911 98165911 + RNA SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 2 98165911 98165911 T C SNP ANKRD36B ENST00000443455 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors ANKRD36B HGNC ENSG00000196912 113 1 0.88 73 11 13.10 - - - BAIAP2-AS1 0 genome.wustl.edu 37 17 79006850 79006850 + RNA SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 17 79006850 79006850 T C SNP BAIAP2-AS1 ENST00000573167 human ensembl 69_37n -1 known rna NULL NULL 0.035 - - - no_errors BAIAP2-AS1 HGNC ENSG00000226137 44 0 0.00 32 4 11.11 - - - C16orf96 0 genome.wustl.edu 37 16 4626109 4626109 + Missense_Mutation SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 16 4626109 4626109 T C SNP C16orf96 ENST00000444310 human ensembl 69_37n +1 known missense c.1628 p.V543A 0.002 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 23 0 0.00 23 8 25.81 - - - C9orf141 0 genome.wustl.edu 37 9 139863841 139863841 + Missense_Mutation SNP C C T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 9 139863841 139863841 C T SNP C9orf141 ENST00000371629 human ensembl 69_37n +1 known missense c.22 p.L8F 0.000 NULL superfamily_Calycin-like - no_errors C9orf141 HGNC ENSG00000198454 44 0 0.00 39 6 13.33 - - - CDH1 0 genome.wustl.edu 37 16 68862155 68862155 + Frame_Shift_Del DEL C C - TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 16 68862155 68862155 C - DEL CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_del c.2243 p.R749fs 0.997 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 75 0 0.00 41 11 20.75 - - - CXorf22 0 genome.wustl.edu 37 X 35989851 35989851 + Missense_Mutation SNP G G T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef X 35989851 35989851 G T SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known missense c.2119 p.G707C 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 36 0 0.00 23 11 32.35 - - - DMBT1 0 genome.wustl.edu 37 10 124339284 124339284 + Silent SNP C C T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 10 124339284 124339284 C T SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known silent c.870 p.G290 0.019 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 136 0 0.00 91 20 18.02 - - - DNPEP 0 genome.wustl.edu 37 2 220250745 220250745 + Missense_Mutation SNP T T A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 2 220250745 220250745 T A SNP DNPEP ENST00000273075 human ensembl 69_37n -1 known missense c.535 p.I179F 1.000 pfam_Peptidase_M18,prints_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 80 0 0.00 45 12 21.05 - - - EPG5 0 genome.wustl.edu 37 18 43532523 43532523 + Missense_Mutation SNP C C A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 18 43532523 43532523 C A SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.1095 p.K365N 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 25 0 0.00 24 7 21.88 - - - EPHX1 0 genome.wustl.edu 37 1 226026576 226026578 + In_Frame_Del DEL AAG AAG - TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 1 226026576 226026578 AAG - DEL EPHX1 ENST00000272167 human ensembl 69_37n +1 known in_frame_del c.586_588 p.K197in_frame_del 1.000:1.000:1.000 pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 47 0 0.00 37 21 35.00 - - - FAM108A1 0 genome.wustl.edu 37 19 1881527 1881527 + Frame_Shift_Del DEL G G - TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 19 1881527 1881527 G - DEL FAM108A1 ENST00000250974 human ensembl 69_37n -1 known frame_shift_del c.39 p.C14fs 1.000 NULL pfam_Dienelactn_hydro - no_errors FAM108A1 HGNC ENSG00000129968 9 0 0.00 4 3 42.86 - - - FAM108A1 0 genome.wustl.edu 37 19 1881529 1881530 + Frame_Shift_Del DEL AG AG - TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 19 1881529 1881530 AG - DEL FAM108A1 ENST00000250974 human ensembl 69_37n -1 known frame_shift_del c.37_36 p.F13fs 1.000:0.997 NULL pfam_Dienelactn_hydro - no_errors FAM108A1 HGNC ENSG00000129968 10 0 0.00 4 3 42.86 - - - GALNT2 0 genome.wustl.edu 37 1 230417408 230417408 + RNA SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 1 230417408 230417408 T C SNP GALNT2 ENST00000485438 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GALNT2 HGNC ENSG00000143641 39 0 0.00 47 6 11.32 - - - GCC1 0 genome.wustl.edu 37 7 127224987 127224987 + Missense_Mutation SNP C C A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 7 127224987 127224987 C A SNP GCC1 ENST00000321407 human ensembl 69_37n -1 known missense c.250 p.D84Y 1.000 NULL pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 40 0 0.00 27 12 30.77 - - - GPC2 0 genome.wustl.edu 37 7 99767587 99767587 + RNA SNP A A G TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 7 99767587 99767587 A G SNP GPC2 ENST00000471050 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GPC2 HGNC ENSG00000213420 32 0 0.00 43 7 14.00 - - - GPRIN1 0 genome.wustl.edu 37 5 176025940 176025940 + Missense_Mutation SNP G G T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 5 176025940 176025940 G T SNP GPRIN1 ENST00000303991 human ensembl 69_37n -1 known missense c.896 p.P299H 0.018 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 53 0 0.00 27 9 25.00 - - - INPP5J 0 genome.wustl.edu 37 22 31521404 31521404 + Missense_Mutation SNP G G A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 22 31521404 31521404 G A SNP INPP5J ENST00000331075 human ensembl 69_37n +1 known missense c.679 p.A227T 0.011 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 25 0 0.00 26 4 13.33 - - - KATNAL2 0 genome.wustl.edu 37 18 44610718 44610718 + Silent SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 18 44610718 44610718 T C SNP KATNAL2 ENST00000592005 human ensembl 69_37n +1 putative silent c.270 p.F90 0.000 NULL pfam_ATPase_AAA_core - no_errors KATNAL2 HGNC ENSG00000167216 35 0 0.00 35 4 10.26 - - - LINC00588 0 genome.wustl.edu 37 8 58192284 58192284 + RNA SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 8 58192284 58192284 T C SNP LINC00588 ENST00000521663 human ensembl 69_37n +1 known rna NULL NULL 0.016 - - - no_errors LINC00588 HGNC ENSG00000215117 35 0 0.00 35 4 10.26 - - - MATN1-AS1 0 genome.wustl.edu 37 1 31192650 31192650 + RNA SNP T T G TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 1 31192650 31192650 T G SNP MATN1-AS1 ENST00000414532 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MATN1-AS1 HGNC ENSG00000186056 54 0 0.00 38 5 11.63 - - - MED23 0 genome.wustl.edu 37 6 131925356 131925356 + Missense_Mutation SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 6 131925356 131925356 T C SNP MED23 ENST00000368058 human ensembl 69_37n -1 known missense c.1736 p.Y579C 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 28 0 0.00 16 6 27.27 - - - MLL3 0 genome.wustl.edu 37 7 151848016 151848019 + Frame_Shift_Del DEL GATG GATG - TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 GATG GATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 7 151848016 151848019 GATG - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.12914_12911 p.S4304fs 1.000:0.999:0.998:1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 32 0 0.00 34 8 19.05 - - - MUC19 0 genome.wustl.edu 37 12 40918902 40918902 + RNA SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 12 40918902 40918902 T C SNP MUC19 ENST00000474954 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors MUC19 HGNC ENSG00000205592 30 0 0.00 21 4 16.00 - - - MUC19 0 genome.wustl.edu 37 12 40954386 40954386 + Silent SNP C C T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 12 40954386 40954386 C T SNP MUC19 ENST00000380816 human ensembl 69_37n +1 novel silent c.1242 p.Y414 0.336 NULL pfam_Cys_knot,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MUC19 HGNC ENSG00000205592 24 0 0.00 17 3 15.00 - - - MUC5B 0 genome.wustl.edu 37 11 1280246 1280246 + Silent SNP G G A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 11 1280246 1280246 G A SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.16677 p.T5559 0.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 35 0 0.00 26 14 35.00 - - - NLRP9 0 genome.wustl.edu 37 19 56226512 56226512 + Missense_Mutation SNP G G T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 19 56226512 56226512 G T SNP NLRP9 ENST00000332836 human ensembl 69_37n -1 known missense c.2410 p.L804I 0.011 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 16 0 0.00 16 6 27.27 - - - NOL6 0 genome.wustl.edu 37 9 33468140 33468140 + Nonsense_Mutation SNP G G A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 9 33468140 33468140 G A SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known nonsense c.1312 p.Q438* 0.999 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 56 0 0.00 31 4 11.43 - - - PCDHB12 0 genome.wustl.edu 37 5 140589906 140589906 + Missense_Mutation SNP C C A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 5 140589906 140589906 C A SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known missense c.1427 p.T476K 0.018 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 88 0 0.00 65 25 27.78 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 12 0 0.00 12 4 25.00 - - - PTPRE 0 genome.wustl.edu 37 10 129883933 129883933 + RNA SNP C C T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 10 129883933 129883933 C T SNP PTPRE ENST00000479896 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors PTPRE HGNC ENSG00000132334 52 0 0.00 33 5 13.16 - - - RABEPK 0 genome.wustl.edu 37 9 127996096 127996096 + Missense_Mutation SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 9 127996096 127996096 T C SNP RABEPK ENST00000373538 human ensembl 69_37n +1 known missense c.956 p.L319P 0.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 41 0 0.00 32 18 36.00 - - - RECQL5 0 genome.wustl.edu 37 17 73657112 73657112 + Silent SNP G G A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 17 73657112 73657112 G A SNP RECQL5 ENST00000317905 human ensembl 69_37n -1 known silent c.909 p.N303 0.976 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 29 0 0.00 23 4 14.81 - - - RNH1 0 genome.wustl.edu 37 11 499583 499583 + Missense_Mutation SNP G G A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 11 499583 499583 G A SNP RNH1 ENST00000531149 human ensembl 69_37n -1 putative missense c.461 p.T154I 0.001 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_stop_codon RNH1 HGNC ENSG00000023191 9 0 0.00 13 6 31.58 - - - SRL 0 genome.wustl.edu 37 16 4257777 4257777 + Silent SNP G G A TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 16 4257777 4257777 G A SNP SRL ENST00000572111 human ensembl 69_37n -1 known silent c.390 p.S130 0.000 NULL NULL - no_errors SRL HGNC ENSG00000185739 97 0 0.00 89 11 10.89 - - - TBX3 0 genome.wustl.edu 37 12 115115441 115115443 + In_Frame_Del DEL GTC GTC - TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 GTC GTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 12 115115441 115115443 GTC - DEL TBX3 ENST00000257566 human ensembl 69_37n -1 known in_frame_del c.885_883 p.D295in_frame_del 1.000:1.000:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 42 0 0.00 31 5 13.89 - - - TNFSF12-TNFSF13 0 genome.wustl.edu 37 17 7463369 7463369 + Missense_Mutation SNP A A T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 17 7463369 7463369 A T SNP TNFSF12-TNFSF13 ENST00000293826 human ensembl 69_37n +1 known missense c.629 p.D210V 1.000 superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF - no_errors TNFSF12-TNFSF13 HGNC ENSG00000248871 29 0 0.00 21 4 16.00 - - - TRAPPC3 0 genome.wustl.edu 37 1 36603290 36603290 + RNA SNP C C T TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 1 36603290 36603290 C T SNP TRAPPC3 ENST00000462715 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors TRAPPC3 HGNC ENSG00000054116 55 0 0.00 32 6 15.79 - - - TRIM49C 0 genome.wustl.edu 37 11 89774236 89774236 + Missense_Mutation SNP C C G TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 11 89774236 89774236 C G SNP TRIM49C ENST00000448984 human ensembl 69_37n +1 known missense c.877 p.H293D 0.024 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49C HGNC ENSG00000204449 33 0 0.00 35 5 12.50 - - - TUBA3FP 0 genome.wustl.edu 37 22 21363744 21363744 + Splice_Site SNP T T C TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 22 21363744 21363744 T C SNP TUBA3FP ENST00000292748 human ensembl 69_37n -1 known splice_site c.NULL NULL 1.000 - - - no_errors TUBA3FP HGNC ENSG00000161149 34 0 0.00 31 4 11.43 - - - TXNRD1 0 genome.wustl.edu 37 12 104703836 104703836 + Missense_Mutation SNP A A G TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 12 104703836 104703836 A G SNP TXNRD1 ENST00000427956 human ensembl 69_37n +1 known missense c.268 p.T90A 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 40 0 0.00 26 5 16.13 - - - ZNF467 0 genome.wustl.edu 37 7 149461958 149461960 + In_Frame_Del DEL AGG AGG - TCGA-A2-A3KC-01A-11D-A20S-09 TCGA-A2-A3KC-10A-01D-A20S-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f9f04e42-63a2-4ee1-ade4-9e5bb5c20cdd abba0fe4-8c3b-4b8d-9b68-36708ba3a4ef 7 149461958 149461960 AGG - DEL ZNF467 ENST00000302017 human ensembl 69_37n -1 known in_frame_del c.1633_1631 p.S544in_frame_del 0.991:0.317:0.255 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 62 0 0.00 24 12 33.33 - - -