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 ACE 0 genome.wustl.edu 37 17 61562387 61562387 + Silent SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 17 61562387 61562387 C A SNP ACE ENST00000490216 human ensembl 69_37n +1 known silent c.159 p.T53 0.001 NULL pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 57 0 0.00 28 5 15.15 - - - ADCY3 0 genome.wustl.edu 37 2 25046212 25046212 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 25046212 25046212 G T SNP ADCY3 ENST00000260600 human ensembl 69_37n -1 known missense c.2749 p.Q917K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 71 0 0.00 35 4 10.26 - - - AGMO 0 genome.wustl.edu 37 7 15458245 15458245 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 7 15458245 15458245 G T SNP AGMO ENST00000342526 human ensembl 69_37n -1 known missense c.547 p.P183T 1.000 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 36 0 0.00 34 4 10.53 - - - AHDC1 0 genome.wustl.edu 37 1 27875353 27875355 + In_Frame_Del DEL AGG AGG - TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 27875353 27875355 AGG - DEL AHDC1 ENST00000247087 human ensembl 69_37n -1 known in_frame_del c.3274_3272 p.S1091in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 60 0 0.00 33 4 10.81 - - - APOB 0 genome.wustl.edu 37 2 21229322 21229322 + Missense_Mutation SNP G G A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 21229322 21229322 G A SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.10418 p.A3473V 0.860 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 38 0 0.00 16 7 30.43 - - - ATP7B 0 genome.wustl.edu 37 13 52518395 52518395 + Silent SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 13 52518395 52518395 G T SNP ATP7B ENST00000242839 human ensembl 69_37n -1 known silent c.3093 p.T1031 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_heavy-metal pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 100 0 0.00 35 4 10.26 - - - BBC3 0 genome.wustl.edu 37 19 47725123 47725123 + Missense_Mutation SNP T T C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 19 47725123 47725123 T C SNP BBC3 ENST00000439096 human ensembl 69_37n -1 known missense c.518 p.N173S 1.000 NULL NULL - no_errors BBC3 HGNC ENSG00000105327 112 0 0.00 49 32 39.51 - - - C11orf63 0 genome.wustl.edu 37 11 122805129 122805129 + Missense_Mutation SNP A A T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 11 122805129 122805129 A T SNP C11orf63 ENST00000227349 human ensembl 69_37n +1 known missense c.980 p.N327I 1.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 61 0 0.00 31 20 39.22 - - - CAPN2 0 genome.wustl.edu 37 1 223900497 223900497 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 223900497 223900497 C A SNP CAPN2 ENST00000295006 human ensembl 69_37n +1 known missense c.155 p.P52Q 0.988 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN2 HGNC ENSG00000162909 46 0 0.00 20 4 16.67 - - - CCDC40 0 genome.wustl.edu 37 17 78064032 78064032 + Missense_Mutation SNP A A G TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 17 78064032 78064032 A G SNP CCDC40 ENST00000374877 human ensembl 69_37n +1 known missense c.2927 p.Q976R 0.006 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 67 0 0.00 14 15 51.72 - - - CLSTN3 0 genome.wustl.edu 37 12 7303269 7303269 + Missense_Mutation SNP A A G TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 12 7303269 7303269 A G SNP CLSTN3 ENST00000266546 human ensembl 69_37n +1 known missense c.2375 p.N792S 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 51 0 0.00 19 15 44.12 - - - COL4A1 0 genome.wustl.edu 37 13 110847433 110847433 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 13 110847433 110847433 C A SNP COL4A1 ENST00000375820 human ensembl 69_37n -1 known missense c.1318 p.G440C 0.872 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 53 0 0.00 30 4 11.76 - - - COL4A2 0 genome.wustl.edu 37 13 111143635 111143635 + Silent SNP G G C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 13 111143635 111143635 G C SNP COL4A2 ENST00000360467 human ensembl 69_37n +1 known silent c.3402 p.G1134 0.492 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 42 0 0.00 18 13 41.94 - - - COL4A5 0 genome.wustl.edu 37 X 107834821 107834822 + Frame_Shift_Ins INS - - C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 X 107834821 107834822 - C INS COL4A5 ENST00000328300 human ensembl 69_37n +1 known frame_shift_ins c.1370_1371 p.G460fs 0.871:0.765 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 89 0 0.00 51 20 28.17 - - - CSMD2 0 genome.wustl.edu 37 1 34011768 34011768 + Missense_Mutation SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 34011768 34011768 C T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.8969 p.R2990H 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 57 0 0.00 22 13 37.14 - - - DKC1 0 genome.wustl.edu 37 X 154002897 154002897 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 X 154002897 154002897 G T SNP DKC1 ENST00000369550 human ensembl 69_37n +1 known missense c.1176 p.M392I 1.000 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 58 0 0.00 22 4 15.38 - - - DNMT3A 0 genome.wustl.edu 37 2 25469630 25469630 + Frame_Shift_Del DEL C C - TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 25469630 25469630 C - DEL DNMT3A ENST00000264709 human ensembl 69_37n -1 known frame_shift_del c.1138 p.A380fs 0.983 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 31 0 0.00 9 6 40.00 - - - DNMT3A 0 genome.wustl.edu 37 2 25469632 25469632 + Frame_Shift_Del DEL C C - TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 25469632 25469632 C - DEL DNMT3A ENST00000264709 human ensembl 69_37n -1 known frame_shift_del c.1136 p.R379fs 0.997 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 28 0 0.00 7 6 42.86 - - - DNMT3L 0 genome.wustl.edu 37 21 45670991 45670991 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 21 45670991 45670991 C A SNP DNMT3L ENST00000436357 human ensembl 69_37n -1 putative missense c.131 p.G44V 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNMT3L HGNC ENSG00000142182 36 0 0.00 17 4 19.05 - - - EFTUD2 0 genome.wustl.edu 37 17 42928692 42928692 + Missense_Mutation SNP T T C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 17 42928692 42928692 T C SNP EFTUD2 ENST00000426333 human ensembl 69_37n -1 known missense c.2869 p.M957V 1.000 NULL pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 32 0 0.00 13 3 18.75 - - - EPAS1 0 genome.wustl.edu 37 2 46574117 46574117 + Silent SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 46574117 46574117 C A SNP EPAS1 ENST00000263734 human ensembl 69_37n +1 known silent c.132 p.P44 0.014 superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_HLH_DNA-bd,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 92 0 0.00 30 5 14.29 - - - EXOC2 0 genome.wustl.edu 37 6 619510 619510 + Silent SNP T T C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 6 619510 619510 T C SNP EXOC2 ENST00000230449 human ensembl 69_37n -1 known silent c.456 p.L152 0.939 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 63 0 0.00 19 9 32.14 - - - FAM20A 0 genome.wustl.edu 37 17 66533883 66533883 + Splice_Site SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 17 66533883 66533883 C A SNP FAM20A ENST00000592554 human ensembl 69_37n -1 known splice_site c.1362-1 e11-1 1.000 - - - no_errors FAM20A HGNC ENSG00000108950 36 0 0.00 18 3 14.29 - - - GALNT6 0 genome.wustl.edu 37 12 51758037 51758037 + Missense_Mutation SNP A A G TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 12 51758037 51758037 A G SNP GALNT6 ENST00000356317 human ensembl 69_37n -1 known missense c.917 p.F306S 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 221 1 0.45 114 15 11.63 - - - GSDMC 0 genome.wustl.edu 37 8 130789734 130789734 + Missense_Mutation SNP G G A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 8 130789734 130789734 G A SNP GSDMC ENST00000276708 human ensembl 69_37n -1 known missense c.100 p.R34C 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 131 0 0.00 31 15 32.61 - - - GTF2IRD2B 0 genome.wustl.edu 37 7 74564167 74564167 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 7 74564167 74564167 G T SNP GTF2IRD2B ENST00000312575 human ensembl 69_37n +1 known missense c.1914 p.R638S 0.106 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 45 0 0.00 26 4 13.33 - - - HIVEP2 0 genome.wustl.edu 37 6 143075010 143075010 + Missense_Mutation SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 6 143075010 143075010 C T SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known missense c.6575 p.G2192D 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 39 0 0.00 49 7 12.50 - - - HMGXB4 0 genome.wustl.edu 37 22 35661431 35661431 + Silent SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 22 35661431 35661431 C A SNP HMGXB4 ENST00000216106 human ensembl 69_37n +1 known silent c.1050 p.A350 0.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC ENSG00000100281 61 0 0.00 30 4 11.76 - - - HNRNPL 0 genome.wustl.edu 37 19 39336615 39336615 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 19 39336615 39336615 G T SNP HNRNPL ENST00000221419 human ensembl 69_37n -1 known missense c.502 p.P168T 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 82 0 0.00 60 7 10.45 - - - HTR7P1 0 genome.wustl.edu 37 12 13153397 13153397 + RNA SNP G G C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 12 13153397 13153397 G C SNP HTR7P1 ENST00000535469 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HTR7P1 HGNC ENSG00000183935 20 0 0.00 13 5 27.78 - - - ITFG3 0 genome.wustl.edu 37 16 314108 314108 + Missense_Mutation SNP G G A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 16 314108 314108 G A SNP ITFG3 ENST00000301678 human ensembl 69_37n +1 known missense c.1282 p.A428T 0.926 NULL superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 70 0 0.00 33 23 41.07 - - - JRK 0 genome.wustl.edu 37 8 143740215 143740215 + RNA SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 8 143740215 143740215 G T SNP JRK ENST00000507178 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors JRK HGNC ENSG00000234616 43 0 0.00 21 3 12.50 - - - KIAA1383 0 genome.wustl.edu 37 1 232943640 232943640 + Silent SNP T T C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 232943640 232943640 T C SNP KIAA1383 ENST00000418460 human ensembl 69_37n +1 known silent c.2871 p.N957 0.000 NULL NULL - no_errors KIAA1383 HGNC ENSG00000212916 26 0 0.00 18 12 40.00 - - - KIAA1522 0 genome.wustl.edu 37 1 33233706 33233706 + Silent SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 33233706 33233706 C A SNP KIAA1522 ENST00000401073 human ensembl 69_37n +1 known silent c.450 p.T150 1.000 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 48 0 0.00 16 8 33.33 - - - KIAA1524 0 genome.wustl.edu 37 3 108298527 108298527 + Silent SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 3 108298527 108298527 C A SNP KIAA1524 ENST00000295746 human ensembl 69_37n -1 known silent c.558 p.V186 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 27 0 0.00 25 21 45.65 - - - KIAA1731 0 genome.wustl.edu 37 11 93429528 93429528 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 11 93429528 93429528 G T SNP KIAA1731 ENST00000411936 human ensembl 69_37n +1 known missense c.1714 p.D572Y 0.985 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 42 0 0.00 33 4 10.81 - - - KIAA1804 0 genome.wustl.edu 37 1 233512266 233512266 + Silent SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 233512266 233512266 C T SNP KIAA1804 ENST00000366624 human ensembl 69_37n +1 known silent c.1917 p.D639 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors RP5-862P8.2 Clone_based_vega_gene ENSG00000143674 87 0 0.00 30 20 40.00 - - - LIMK1 0 genome.wustl.edu 37 7 73520486 73520486 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 7 73520486 73520486 G T SNP LIMK1 ENST00000336180 human ensembl 69_37n +1 known missense c.794 p.G265V 0.242 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 54 0 0.00 34 4 10.53 - - - LRRC48 0 genome.wustl.edu 37 17 17907781 17907781 + Silent SNP G G A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 17 17907781 17907781 G A SNP LRRC48 ENST00000313838 human ensembl 69_37n +1 known silent c.1104 p.L368 0.998 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 82 0 0.00 32 14 29.79 - - - MLL3 0 genome.wustl.edu 37 7 151879136 151879136 + Nonsense_Mutation SNP G G A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 7 151879136 151879136 G A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.5809 p.Q1937* 0.047 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 70 0 0.00 26 18 40.91 - - - NRXN1 0 genome.wustl.edu 37 2 50201237 50201237 + Silent SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 50201237 50201237 G T SNP NRXN1 ENST00000412315 human ensembl 69_37n -1 novel silent c.105 p.S35 1.000 NULL smart_Neurexin-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NRXN1 HGNC ENSG00000179915 51 0 0.00 28 4 12.50 - - - PHF3 0 genome.wustl.edu 37 6 64404655 64404655 + Splice_Site SNP G G C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 6 64404655 64404655 G C SNP PHF3 ENST00000262043 human ensembl 69_37n +1 known splice_site c.2680+1 e5+1 1.000 - - - no_errors PHF3 HGNC ENSG00000118482 28 0 0.00 28 4 12.50 - - - PLA2G15 0 genome.wustl.edu 37 16 68293091 68293091 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 16 68293091 68293091 G T SNP PLA2G15 ENST00000219345 human ensembl 69_37n +1 known missense c.770 p.R257L 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 70 0 0.00 36 4 10.00 - - - PPP1R16A 0 genome.wustl.edu 37 8 145722633 145722633 + Missense_Mutation SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 8 145722633 145722633 C T SNP PPP1R16A ENST00000292539 human ensembl 69_37n +1 known missense c.56 p.T19I 1.000 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 51 0 0.00 21 4 16.00 - - - PRKDC 0 genome.wustl.edu 37 8 48812933 48812933 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 8 48812933 48812933 C A SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.3364 p.G1122C 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 60 0 0.00 30 4 11.76 - - - PRPSAP1 0 genome.wustl.edu 37 17 74324845 74324845 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 17 74324845 74324845 G T SNP PRPSAP1 ENST00000446526 human ensembl 69_37n -1 known missense c.734 p.P245Q 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 111 0 0.00 38 5 11.63 - - - PVRL4 0 genome.wustl.edu 37 1 161042511 161042511 + Silent SNP G G A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 161042511 161042511 G A SNP PVRL4 ENST00000368012 human ensembl 69_37n -1 known silent c.1473 p.T491 0.962 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PVRL4 HGNC ENSG00000143217 115 0 0.00 41 28 40.00 - - - RBBP6 0 genome.wustl.edu 37 16 24583718 24583718 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 16 24583718 24583718 G T SNP RBBP6 ENST00000319715 human ensembl 69_37n +1 known missense c.5331 p.E1777D 0.883 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 28 0 0.00 15 4 21.05 - - - RNA5SP392 0 genome.wustl.edu 37 15 40623824 40623824 + RNA SNP A A G TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 15 40623824 40623824 A G SNP RNA5SP392 ENST00000516905 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RNA5SP392 HGNC ENSG00000252714 24 0 0.00 12 4 25.00 - - - RNF220 0 genome.wustl.edu 37 1 44877815 44877815 + Missense_Mutation SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 44877815 44877815 C T SNP RNF220 ENST00000355387 human ensembl 69_37n +1 known missense c.46 p.L16F 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 106 0 0.00 50 10 16.67 - - - RPAP1 0 genome.wustl.edu 37 15 41828343 41828343 + Missense_Mutation SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 15 41828343 41828343 C T SNP RPAP1 ENST00000304330 human ensembl 69_37n -1 known missense c.404 p.R135H 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 50 0 0.00 28 5 15.15 - - - RPRD2 0 genome.wustl.edu 37 1 150445838 150445838 + RNA SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 150445838 150445838 C A SNP RPRD2 ENST00000492220 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPRD2 HGNC ENSG00000163125 33 0 0.00 23 4 14.81 - - - RPS20 0 genome.wustl.edu 37 8 56986993 56986993 + RNA SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 8 56986993 56986993 C T SNP RPS20 ENST00000520490 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RPS20 HGNC ENSG00000008988 19 0 0.00 9 4 30.77 - - - RTKN 0 genome.wustl.edu 37 2 74659597 74659597 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 74659597 74659597 C A SNP RTKN ENST00000272430 human ensembl 69_37n -1 known missense c.308 p.R103L 1.000 NULL pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 105 0 0.00 35 4 10.26 - - - SDK2 0 genome.wustl.edu 37 17 71375613 71375613 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 17 71375613 71375613 G T SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.4838 p.P1613Q 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 51 0 0.00 22 3 12.00 - - - SH3RF3 0 genome.wustl.edu 37 2 110107366 110107366 + Silent SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 110107366 110107366 C A SNP SH3RF3 ENST00000309415 human ensembl 69_37n +1 known silent c.2454 p.P818 0.002 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox - no_errors SH3RF3 HGNC ENSG00000172985 45 0 0.00 27 5 15.62 - - - SLC22A8 0 genome.wustl.edu 37 11 62761059 62761059 + Nonsense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 11 62761059 62761059 C A SNP SLC22A8 ENST00000336232 human ensembl 69_37n -1 known nonsense c.1366 p.G456* 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC ENSG00000149452 61 0 0.00 33 4 10.81 - - - SLC8A2 0 genome.wustl.edu 37 19 47960788 47960789 + Frame_Shift_Ins INS - - G TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 19 47960788 47960789 - G INS SLC8A2 ENST00000236877 human ensembl 69_37n -1 known frame_shift_ins c.739_738 p.D246fs 1.000:0.926 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 37 0 0.00 5 2 28.57 - - - SPRR2G 0 genome.wustl.edu 37 1 153122539 153122539 + Silent SNP A A G TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 153122539 153122539 A G SNP SPRR2G ENST00000368748 human ensembl 69_37n -1 known silent c.48 p.P16 0.345 NULL NULL - no_errors SPRR2G HGNC ENSG00000159516 164 0 0.00 99 30 23.26 - - - STOX1 0 genome.wustl.edu 37 10 70644056 70644056 + Silent SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 10 70644056 70644056 G T SNP STOX1 ENST00000298596 human ensembl 69_37n +1 known silent c.504 p.L168 1.000 pfam_Storkhead-box_winged-helix pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 44 0 0.00 15 3 16.67 - - - SUN2 0 genome.wustl.edu 37 22 39137043 39137043 + Missense_Mutation SNP G G T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 22 39137043 39137043 G T SNP SUN2 ENST00000216064 human ensembl 69_37n -1 known missense c.1159 p.R387S 0.510 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 74 0 0.00 27 3 10.00 - - - SYNJ1 0 genome.wustl.edu 37 21 34018835 34018835 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 21 34018835 34018835 C A SNP SYNJ1 ENST00000433931 human ensembl 69_37n -1 known missense c.3232 p.G1078C 0.998 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 55 0 0.00 27 4 12.90 - - - TFPI2 0 genome.wustl.edu 37 7 93519971 93519972 + Frame_Shift_Ins INS - - G TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 7 93519971 93519972 - G INS TFPI2 ENST00000222543 human ensembl 69_37n -1 known frame_shift_ins c.20_19 p.L7fs 0.001:0.000 pirsf_Prot_inhib_I2_TFPI pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 9 0 0.00 10 2 16.67 - - - TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 64 0 0.00 31 4 11.43 - - - TXNRD2 0 genome.wustl.edu 37 22 19886581 19886581 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 22 19886581 19886581 C A SNP TXNRD2 ENST00000535882 human ensembl 69_37n -1 known missense c.670 p.G224W 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 54 0 0.00 23 3 11.54 - - - USH2A 0 genome.wustl.edu 37 1 216390733 216390733 + Silent SNP G G A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 1 216390733 216390733 G A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known silent c.3153 p.S1051 1.000 pfscan_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 53 0 0.00 31 5 13.89 - - - USP25 0 genome.wustl.edu 37 21 17250132 17250132 + Silent SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 21 17250132 17250132 C A SNP USP25 ENST00000400183 human ensembl 69_37n +1 known silent c.3027 p.A1009 0.774 NULL pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP25 HGNC ENSG00000155313 38 0 0.00 34 4 10.53 - - - USP34 0 genome.wustl.edu 37 2 61484057 61484057 + Missense_Mutation SNP T T C TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 61484057 61484057 T C SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.6077 p.E2026G 1.000 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 32 0 0.00 49 10 16.95 - - - VCAN 0 genome.wustl.edu 37 5 82815219 82815219 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 5 82815219 82815219 C A SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.1094 p.P365H 0.967 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 51 0 0.00 29 4 12.12 - - - VPS51 0 genome.wustl.edu 37 11 64876339 64876339 + Missense_Mutation SNP C C A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 11 64876339 64876339 C A SNP VPS51 ENST00000279281 human ensembl 69_37n +1 known missense c.1396 p.L466I 1.000 NULL pfam_Vps51,pfam_Dor1,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 69 0 0.00 31 4 11.43 - - - ZAK 0 genome.wustl.edu 37 2 174086217 174086219 + In_Frame_Del DEL GAC GAC - TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 GAC GAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 2 174086217 174086219 GAC - DEL ZAK ENST00000338983 human ensembl 69_37n +1 known in_frame_del c.1327_1329 p.D443in_frame_del 1.000:0.982:0.676 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AC013461.1 Clone_based_vega_gene ENSG00000091436 52 0 0.00 13 2 13.33 - - - ZNF608 0 genome.wustl.edu 37 5 123972613 123972614 + RNA INS - - A TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 5 123972613 123972614 - A INS ZNF608 ENST00000513985 human ensembl 69_37n -1 known rna NULL NULL 0.291:0.200 - - - no_errors ZNF608 HGNC ENSG00000168916 9 0 0.00 13 10 43.48 - - - ZNF814 0 genome.wustl.edu 37 19 58384274 58384274 + Frame_Shift_Del DEL A A - TCGA-A7-A3RF-01A-11D-A228-09 TCGA-A7-A3RF-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8de39bb8-b65a-4494-9201-441fe4f91057 3f6d602b-9a9f-4ed7-9155-14868319e688 19 58384274 58384274 A - DEL ZNF814 ENST00000435989 human ensembl 69_37n -1 known frame_shift_del c.2484 p.Y828fs 0.364 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 ZNF814 HGNC ENSG00000204514 134 0 0.00 62 43 40.57 - - -