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 AARSD1 0 genome.wustl.edu 37 17 41113324 41113324 + Missense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 41113324 41113324 C G SNP AARSD1 ENST00000452752 human ensembl 69_37n -1 putative missense c.523 p.D175H 1.000 pfam_Ala-tRNA-synth_IIc_N pfam_Ala-tRNA-synth_IIc_N,superfamily_HSP20-like_chaperone - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AARSD1 HGNC ENSG00000108825 116 0 0.00 87 10 10.31 - - - ABCA12 0 genome.wustl.edu 37 2 215831626 215831626 + Silent SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 2 215831626 215831626 G A SNP ABCA12 ENST00000272895 human ensembl 69_37n -1 known silent c.5830 p.L1944 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 262 0 0.00 190 38 16.67 - - - ABCA13 0 genome.wustl.edu 37 7 48349591 48349591 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 7 48349591 48349591 G T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.9369 p.Q3123H 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 199 0 0.00 177 30 14.42 - - - ACTN2 0 genome.wustl.edu 37 1 236925894 236925894 + Missense_Mutation SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 236925894 236925894 C A SNP ACTN2 ENST00000366578 human ensembl 69_37n +1 known missense c.2660 p.A887E 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ENSG00000077522 53 0 0.00 68 22 24.44 - - - ACTN4 0 genome.wustl.edu 37 19 39205151 39205151 + Frame_Shift_Del DEL A A - TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 39205151 39205151 A - DEL ACTN4 ENST00000252699 human ensembl 69_37n +1 known frame_shift_del c.862 p.N288fs 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN4 HGNC ENSG00000130402 54 0 0.00 59 9 13.24 - - - ANKK1 0 genome.wustl.edu 37 11 113269799 113269799 + Missense_Mutation SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 11 113269799 113269799 G A SNP ANKK1 ENST00000303941 human ensembl 69_37n +1 known missense c.1108 p.V370M 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ANKK1 HGNC ENSG00000170209 73 0 0.00 60 14 18.92 - - - ARHGAP40 0 genome.wustl.edu 37 20 37267927 37267927 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 20 37267927 37267927 G T SNP ARHGAP40 ENST00000373345 human ensembl 69_37n +1 known missense c.1018 p.V340F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ENSG00000124143 181 1 0.55 145 75 34.09 - - - ATM 0 genome.wustl.edu 37 11 108106472 108106472 + Frame_Shift_Del DEL T T - TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 11 108106472 108106472 T - DEL ATM ENST00000278616 human ensembl 69_37n +1 known frame_shift_del c.407 p.Y137fs 0.013 pfam_TAN pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ENSG00000149311 302 0 0.00 189 24 11.16 - - - ATXN7L1 0 genome.wustl.edu 37 7 105254792 105254792 + Missense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 7 105254792 105254792 C G SNP ATXN7L1 ENST00000419735 human ensembl 69_37n -1 known missense c.1989 p.Q663H 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 358 0 0.00 243 48 16.49 - - - BABAM1 0 genome.wustl.edu 37 19 17379746 17379746 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 17379746 17379746 G T SNP BABAM1 ENST00000359435 human ensembl 69_37n +1 known missense c.131 p.S44I 0.326 NULL NULL - no_errors BABAM1 HGNC ENSG00000105393 33 0 0.00 20 17 45.95 - - - BCL11A 0 genome.wustl.edu 37 2 60689460 60689460 + Missense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 2 60689460 60689460 C G SNP BCL11A ENST00000335712 human ensembl 69_37n -1 known missense c.587 p.R196T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 97 0 0.00 72 24 25.00 - - - C12orf36 0 genome.wustl.edu 37 12 13529254 13529254 + Missense_Mutation SNP T T C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 12 13529254 13529254 T C SNP C12orf36 ENST00000318426 human ensembl 69_37n -1 known missense c.86 p.D29G 0.009 NULL NULL - no_errors C12orf36 HGNC ENSG00000180861 155 0 0.00 172 23 11.79 - - - C13orf35 0 genome.wustl.edu 37 13 113333794 113333794 + Missense_Mutation SNP A A G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 13 113333794 113333794 A G SNP C13orf35 ENST00000356049 human ensembl 69_37n +1 putative missense c.101 p.K34R 0.001 NULL NULL - no_errors C13orf35 HGNC ENSG00000197595 37 0 0.00 57 15 20.83 - - - CACNA1S 0 genome.wustl.edu 37 1 201079345 201079345 + Missense_Mutation SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 201079345 201079345 C A SNP CACNA1S ENST00000362061 human ensembl 69_37n -1 known missense c.205 p.A69S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 114 0 0.00 139 63 31.19 - - - CCDC126 0 genome.wustl.edu 37 7 23682551 23682551 + Silent SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 7 23682551 23682551 G A SNP CCDC126 ENST00000307471 human ensembl 69_37n +1 known silent c.240 p.A80 1.000 NULL NULL - no_errors CCDC126 HGNC ENSG00000169193 148 0 0.00 78 35 30.97 - - - CSMD1 0 genome.wustl.edu 37 8 3000129 3000129 + Missense_Mutation SNP T T G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 8 3000129 3000129 T G SNP CSMD1 ENST00000335551 human ensembl 69_37n -1 novel missense c.4540 p.T1514P 0.001 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CSMD1 HGNC ENSG00000183117 245 1 0.41 145 36 19.89 - - - CWF19L1 0 genome.wustl.edu 37 10 102003460 102003460 + Missense_Mutation SNP T T C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 10 102003460 102003460 T C SNP CWF19L1 ENST00000354105 human ensembl 69_37n -1 known missense c.1039 p.T347A 1.000 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L1 HGNC ENSG00000095485 176 0 0.00 123 16 11.43 - - - DAXX 0 genome.wustl.edu 37 6 33288193 33288193 + Silent SNP A A G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 6 33288193 33288193 A G SNP DAXX ENST00000266000 human ensembl 69_37n -1 known silent c.1215 p.S405 0.003 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 74 0 0.00 74 15 16.85 - - - DDX3X 0 genome.wustl.edu 37 X 41204455 41204455 + Missense_Mutation SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 X 41204455 41204455 G A SNP DDX3X ENST00000399959 human ensembl 69_37n +1 known missense c.1048 p.D350N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 243 0 0.00 182 33 15.35 - - - DGAT2L6 0 genome.wustl.edu 37 X 69424916 69424916 + Missense_Mutation SNP A A G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 X 69424916 69424916 A G SNP DGAT2L6 ENST00000333026 human ensembl 69_37n +1 known missense c.974 p.E325G 0.810 pfam_DAGAT pfam_DAGAT - no_errors DGAT2L6 HGNC ENSG00000184210 106 0 0.00 62 8 11.43 - - - DPYS 0 genome.wustl.edu 37 8 105441860 105441860 + Missense_Mutation SNP T T C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 8 105441860 105441860 T C SNP DPYS ENST00000351513 human ensembl 69_37n -1 known missense c.863 p.E288G 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 110 0 0.00 111 45 28.85 - - - EIF4A3 0 genome.wustl.edu 37 17 78112938 78112938 + Missense_Mutation SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 78112938 78112938 C A SNP EIF4A3 ENST00000269349 human ensembl 69_37n -1 known missense c.610 p.V204L 0.999 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A3 HGNC ENSG00000141543 118 0 0.00 164 26 13.61 - - - ELF3 0 genome.wustl.edu 37 1 201984385 201984385 + Silent SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 201984385 201984385 C G SNP ELF3 ENST00000359651 human ensembl 69_37n +1 known silent c.1050 p.L350 0.273 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF3 HGNC ENSG00000163435 103 0 0.00 85 42 33.07 - - - ENAM 0 genome.wustl.edu 37 4 71500244 71500244 + Missense_Mutation SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 4 71500244 71500244 C A SNP ENAM ENST00000396073 human ensembl 69_37n +1 known missense c.430 p.H144N 0.000 NULL NULL - no_errors ENAM HGNC ENSG00000132464 143 0 0.00 55 29 34.52 - - - FAM115A 0 genome.wustl.edu 37 7 143573445 143573445 + Missense_Mutation SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 7 143573445 143573445 G C SNP FAM115A ENST00000479870 human ensembl 69_37n -1 known missense c.257 p.S86C 0.861 NULL NULL - no_errors FAM115A HGNC ENSG00000198420 36 0 0.00 46 10 17.86 - - - FLG 0 genome.wustl.edu 37 1 152275739 152275739 + Missense_Mutation SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 152275739 152275739 C A SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.11623 p.D3875Y 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 236 0 0.00 328 60 15.46 - - - FOLH1 0 genome.wustl.edu 37 11 49175795 49175795 + Missense_Mutation SNP A A C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 11 49175795 49175795 A C SNP FOLH1 ENST00000256999 human ensembl 69_37n -1 known missense c.1873 p.Y625D 0.885 superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 269 1 0.37 173 27 13.43 - - - FRMPD2 0 genome.wustl.edu 37 10 49452893 49452893 + Splice_Site SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 10 49452893 49452893 C G SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known splice_site c.310-1 e4-1 0.964 - - - no_errors FRMPD2 HGNC ENSG00000170324 91 0 0.00 62 20 24.39 - - - GATM 0 genome.wustl.edu 37 15 45658607 45658607 + Missense_Mutation SNP T T A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 15 45658607 45658607 T A SNP GATM ENST00000396659 human ensembl 69_37n -1 known missense c.775 p.I259F 1.000 NULL NULL - no_errors GATM HGNC ENSG00000171766 126 0 0.00 74 14 15.91 - - - HFM1 0 genome.wustl.edu 37 1 91784682 91784682 + Missense_Mutation SNP T T A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 91784682 91784682 T A SNP HFM1 ENST00000370425 human ensembl 69_37n -1 known missense c.2765 p.K922I 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 116 0 0.00 107 17 13.71 - - - HNRNPH3 0 genome.wustl.edu 37 10 70097706 70097706 + Missense_Mutation SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 10 70097706 70097706 G C SNP HNRNPH3 ENST00000265866 human ensembl 69_37n +1 known missense c.204 p.E68D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH3 HGNC ENSG00000096746 254 0 0.00 221 29 11.55 - - - HOXB8 0 genome.wustl.edu 37 17 46690618 46690618 + Missense_Mutation SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 46690618 46690618 C A SNP HOXB8 ENST00000239144 human ensembl 69_37n -1 known missense c.678 p.E226D 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif,pfscan_Homeodomain - no_errors HOXB8 HGNC ENSG00000120068 138 0 0.00 87 17 16.35 - - - IGF2BP3 0 genome.wustl.edu 37 7 23352363 23352363 + Silent SNP A A G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 7 23352363 23352363 A G SNP IGF2BP3 ENST00000258729 human ensembl 69_37n -1 known silent c.1632 p.Y544 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 124 0 0.00 94 17 15.18 - - - IL18R1 0 genome.wustl.edu 37 2 102988435 102988435 + Silent SNP T T C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 2 102988435 102988435 T C SNP IL18R1 ENST00000233957 human ensembl 69_37n +1 known silent c.325 p.L109 0.024 smart_Ig_sub pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL18R1 HGNC ENSG00000115604 44 0 0.00 34 8 19.05 - - - IL6ST 0 genome.wustl.edu 37 5 55237028 55237028 + Missense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 5 55237028 55237028 C G SNP IL6ST ENST00000336909 human ensembl 69_37n -1 known missense c.2639 p.G880A 0.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 76 0 0.00 50 6 10.71 - - - IQGAP2 0 genome.wustl.edu 37 5 75993917 75993917 + Nonsense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 5 75993917 75993917 C T SNP IQGAP2 ENST00000274364 human ensembl 69_37n +1 known nonsense c.4312 p.Q1438* 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 88 0 0.00 46 19 29.23 - - - KAT6B 0 genome.wustl.edu 37 10 76788498 76788498 + Missense_Mutation SNP A A T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 10 76788498 76788498 A T SNP KAT6B ENST00000287239 human ensembl 69_37n +1 known missense c.3916 p.R1306W 0.002 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 66 0 0.00 40 6 13.04 - - - KCNQ3 0 genome.wustl.edu 37 8 133150245 133150245 + Silent SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 8 133150245 133150245 G C SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known silent c.1587 p.L529 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 63 0 0.00 37 57 60.64 - - - LAMB2 0 genome.wustl.edu 37 3 49162717 49162717 + Missense_Mutation SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 3 49162717 49162717 G C SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known missense c.2689 p.R897G 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 37 0 0.00 29 11 27.50 - - - LPHN2 0 genome.wustl.edu 37 1 82416781 82416781 + Missense_Mutation SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 82416781 82416781 C A SNP LPHN2 ENST00000370717 human ensembl 69_37n +1 known missense c.1572 p.H524Q 1.000 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 96 0 0.00 101 22 17.89 - - - LTBP2 0 genome.wustl.edu 37 14 74972814 74972814 + Missense_Mutation SNP A A C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 14 74972814 74972814 A C SNP LTBP2 ENST00000261978 human ensembl 69_37n -1 known missense c.4114 p.C1372G 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 45 0 0.00 34 17 33.33 - - - MAP3K10 0 genome.wustl.edu 37 19 40720993 40720993 + Missense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 40720993 40720993 C G SNP MAP3K10 ENST00000253055 human ensembl 69_37n +1 known missense c.2659 p.P887A 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,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 MAP3K10 HGNC ENSG00000130758 15 0 0.00 5 4 44.44 - - - MEIS1 0 genome.wustl.edu 37 2 66664937 66664937 + Silent SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 2 66664937 66664937 G A SNP MEIS1 ENST00000407092 human ensembl 69_37n +1 known silent c.81 p.P27 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS1 HGNC ENSG00000143995 69 0 0.00 50 9 15.25 - - - MGAT3 0 genome.wustl.edu 37 22 39884853 39884853 + Missense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 22 39884853 39884853 C G SNP MGAT3 ENST00000341184 human ensembl 69_37n +1 known missense c.1501 p.P501A 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 26 0 0.00 26 6 18.75 - - - MYH13 0 genome.wustl.edu 37 17 10243510 10243510 + Silent SNP A A T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 10243510 10243510 A T SNP MYH13 ENST00000252172 human ensembl 69_37n -1 known silent c.2013 p.P671 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH13 HGNC ENSG00000006788 214 0 0.00 168 21 11.11 - - - MYO1F 0 genome.wustl.edu 37 19 8620576 8620576 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 8620576 8620576 G T SNP MYO1F ENST00000338257 human ensembl 69_37n -1 known missense c.108 p.N36K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 108 0 0.00 122 21 14.69 - - - NCCRP1 0 genome.wustl.edu 37 19 39691392 39691392 + Missense_Mutation SNP A A G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 39691392 39691392 A G SNP NCCRP1 ENST00000339852 human ensembl 69_37n +1 known missense c.824 p.E275G 0.976 NULL pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom - no_errors NCCRP1 HGNC ENSG00000188505 35 0 0.00 25 8 24.24 - - - NR0B2 0 genome.wustl.edu 37 1 27238463 27238463 + Missense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 27238463 27238463 C T SNP NR0B2 ENST00000254227 human ensembl 69_37n -1 known missense c.647 p.R216H 0.529 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B2 HGNC ENSG00000131910 132 0 0.00 93 24 20.51 - - - OR2T11 0 genome.wustl.edu 37 1 248789657 248789657 + Missense_Mutation SNP A A G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 248789657 248789657 A G SNP OR2T11 ENST00000330803 human ensembl 69_37n -1 known missense c.773 p.L258P 0.026 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 OR2T11 HGNC ENSG00000183130 61 0 0.00 111 13 10.48 - - - OR4K13 0 genome.wustl.edu 37 14 20502724 20502724 + Missense_Mutation SNP T T G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 14 20502724 20502724 T G SNP OR4K13 ENST00000315693 human ensembl 69_37n -1 known missense c.194 p.N65T 0.072 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4K13 HGNC ENSG00000176253 133 0 0.00 92 18 16.36 - - - OR52R1 0 genome.wustl.edu 37 11 4825512 4825512 + Silent SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 11 4825512 4825512 C T SNP OR52R1 ENST00000380382 human ensembl 69_37n -1 known silent c.336 p.P112 0.034 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 121 0 0.00 89 37 29.37 - - - OTUD7A 0 genome.wustl.edu 37 15 31776741 31776741 + Missense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 15 31776741 31776741 C T SNP OTUD7A ENST00000382902 human ensembl 69_37n -1 known missense c.1558 p.V520M 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 113 0 0.00 85 13 13.27 - - - PHLDB1 0 genome.wustl.edu 37 11 118516531 118516531 + Silent SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 11 118516531 118516531 C A SNP PHLDB1 ENST00000361417 human ensembl 69_37n +1 known silent c.3495 p.L1165 1.000 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 171 0 0.00 168 21 11.11 - - - PRAMEF2 0 genome.wustl.edu 37 1 12919596 12919596 + Silent SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 12919596 12919596 C T SNP PRAMEF2 ENST00000240189 human ensembl 69_37n +1 known silent c.336 p.F112 0.062 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 176 0 0.00 81 48 37.21 - - - PROSC 0 genome.wustl.edu 37 8 37635577 37635577 + Missense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 8 37635577 37635577 C T SNP PROSC ENST00000521494 human ensembl 69_37n +1 putative missense c.689 p.A230V 0.000 NULL pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PROSC HGNC ENSG00000147471 80 0 0.00 57 12 17.39 - - - PTPRZ1 0 genome.wustl.edu 37 7 121652195 121652195 + Missense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 7 121652195 121652195 C T SNP PTPRZ1 ENST00000393386 human ensembl 69_37n +1 known missense c.3095 p.S1032F 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a - no_errors PTPRZ1 HGNC ENSG00000106278 117 0 0.00 46 15 24.59 - - - RBPJL 0 genome.wustl.edu 37 20 43936867 43936867 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 20 43936867 43936867 G T SNP RBPJL ENST00000343694 human ensembl 69_37n +1 known missense c.107 p.R36L 0.882 NULL pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJL HGNC ENSG00000124232 65 0 0.00 41 13 24.07 - - - REM1 0 genome.wustl.edu 37 20 30070112 30070112 + Nonsense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 20 30070112 30070112 C G SNP REM1 ENST00000201979 human ensembl 69_37n +1 known nonsense c.446 p.S149* 0.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors REM1 HGNC ENSG00000088320 51 0 0.00 53 6 10.17 - - - RNF13 0 genome.wustl.edu 37 3 149619889 149619889 + Missense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 3 149619889 149619889 C T SNP RNF13 ENST00000344229 human ensembl 69_37n +1 known missense c.440 p.S147F 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF13 HGNC ENSG00000082996 80 0 0.00 50 9 15.25 - - - RNF169 0 genome.wustl.edu 37 11 74546847 74546847 + Missense_Mutation SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 11 74546847 74546847 G A SNP RNF169 ENST00000299563 human ensembl 69_37n +1 known missense c.1199 p.R400H 0.997 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 97 0 0.00 78 22 22.00 - - - RSPH1 0 genome.wustl.edu 37 21 43906485 43906485 + Missense_Mutation SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 21 43906485 43906485 G C SNP RSPH1 ENST00000291536 human ensembl 69_37n -1 known missense c.361 p.Q121E 1.000 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 159 0 0.00 138 19 12.10 - - - SCN2A 0 genome.wustl.edu 37 2 166201296 166201296 + Missense_Mutation SNP T T A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 2 166201296 166201296 T A SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known missense c.2794 p.F932I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 315 0 0.00 276 64 18.82 - - - SH3BP1 0 genome.wustl.edu 37 22 38044419 38044419 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 22 38044419 38044419 G T SNP SH3BP1 ENST00000357436 human ensembl 69_37n +1 known missense c.1293 p.L431F 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 79 0 0.00 93 22 19.13 - - - SIPA1L2 0 genome.wustl.edu 37 1 232581367 232581367 + Silent SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 232581367 232581367 G A SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known silent c.3261 p.P1087 0.797 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 40 0 0.00 72 20 21.74 - - - SLC12A5 0 genome.wustl.edu 37 20 44676722 44676722 + Missense_Mutation SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 20 44676722 44676722 G C SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.2079 p.W693C 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 93 0 0.00 104 17 14.05 - - - SLC22A3 0 genome.wustl.edu 37 6 160858230 160858230 + Silent SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 6 160858230 160858230 G A SNP SLC22A3 ENST00000392145 human ensembl 69_37n +1 known silent c.1275 p.A425 0.997 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 SLC22A3 HGNC ENSG00000146477 67 0 0.00 57 11 16.18 - - - SMEK1 0 genome.wustl.edu 37 14 91948389 91948389 + Missense_Mutation SNP G G A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 14 91948389 91948389 G A SNP SMEK1 ENST00000554943 human ensembl 69_37n -1 known missense c.446 p.S149L 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC ENSG00000100796 104 0 0.00 56 16 22.22 - - - SPECC1 0 genome.wustl.edu 37 17 20156897 20156897 + Nonsense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 20156897 20156897 C T SNP SPECC1 ENST00000581399 human ensembl 69_37n +1 putative nonsense c.1192 p.Q398* 0.999 NULL pfam_CH-domain,superfamily_CH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SPECC1 HGNC ENSG00000128487 96 0 0.00 61 32 34.41 - - - STRN4 0 genome.wustl.edu 37 19 47242077 47242077 + Silent SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 47242077 47242077 C T SNP STRN4 ENST00000391910 human ensembl 69_37n -1 known silent c.351 p.R117 1.000 pfam_Striatin_N pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 205 1 0.48 157 18 10.29 - - - SUPT5H 0 genome.wustl.edu 37 19 39957372 39957372 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 39957372 39957372 G T SNP SUPT5H ENST00000359191 human ensembl 69_37n +1 known missense c.1024 p.A342S 1.000 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 90 0 0.00 49 18 26.87 - - - SYDE2 0 genome.wustl.edu 37 1 85624636 85624636 + Missense_Mutation SNP T T C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 85624636 85624636 T C SNP SYDE2 ENST00000341460 human ensembl 69_37n -1 known missense c.3382 p.K1128E 0.080 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 239 0 0.00 180 23 11.33 - - - SYT3 0 genome.wustl.edu 37 19 51132591 51132591 + Frame_Shift_Del DEL G G - TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 51132591 51132591 G - DEL SYT3 ENST00000338916 human ensembl 69_37n -1 known frame_shift_del c.1241 p.P414fs 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT3 HGNC ENSG00000213023 36 0 0.00 20 4 16.00 - - - SYT9 0 genome.wustl.edu 37 11 7334807 7334807 + Missense_Mutation SNP A A G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 11 7334807 7334807 A G SNP SYT9 ENST00000318881 human ensembl 69_37n +1 known missense c.679 p.I227V 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,prints_Synaptotagmin pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 184 0 0.00 112 50 30.86 - - - TEX14 0 genome.wustl.edu 37 17 56688647 56688647 + Silent SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 56688647 56688647 C T SNP TEX14 ENST00000240361 human ensembl 69_37n -1 known silent c.1077 p.Q359 0.944 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 74 0 0.00 52 7 11.86 - - - TMEM38A 0 genome.wustl.edu 37 19 16793232 16793232 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 16793232 16793232 G T SNP TMEM38A ENST00000187762 human ensembl 69_37n +1 known missense c.467 p.G156V 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 134 0 0.00 128 41 24.26 - - - TMEM63B 0 genome.wustl.edu 37 6 44119646 44119646 + Missense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 6 44119646 44119646 C T SNP TMEM63B ENST00000533121 human ensembl 69_37n +1 known missense c.1183 p.R395W 1.000 pfam_DUF221 pfam_DUF221 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM63B HGNC ENSG00000137216 39 0 0.00 55 21 27.63 - - - TNN 0 genome.wustl.edu 37 1 175067625 175067625 + Silent SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 1 175067625 175067625 C T SNP TNN ENST00000239462 human ensembl 69_37n +1 known silent c.2013 p.S671 0.139 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 93 0 0.00 88 34 27.42 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.524 p.R175H 1.000 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 65 0 0.00 34 23 40.35 - - - TP53I3 0 genome.wustl.edu 37 2 24303814 24303814 + Missense_Mutation SNP C C T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 2 24303814 24303814 C T SNP TP53I3 ENST00000238721 human ensembl 69_37n -1 known missense c.494 p.G165E 0.061 pfam_ADH_C,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3 - no_errors TP53I3 HGNC ENSG00000115129 123 0 0.00 119 15 11.19 - - - TRAM2 0 genome.wustl.edu 37 6 52370475 52370475 + Missense_Mutation SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 6 52370475 52370475 G C SNP TRAM2 ENST00000182527 human ensembl 69_37n -1 known missense c.797 p.A266G 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM2 HGNC ENSG00000065308 103 0 0.00 80 64 44.44 - - - USP6 0 genome.wustl.edu 37 17 5036239 5036239 + Missense_Mutation SNP G G T TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 5036239 5036239 G T SNP USP6 ENST00000250066 human ensembl 69_37n +1 known missense c.230 p.W77L 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 248 1 0.40 219 35 13.78 - - - VPS13B 0 genome.wustl.edu 37 8 100866232 100866232 + Missense_Mutation SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 8 100866232 100866232 G C SNP VPS13B ENST00000358544 human ensembl 69_37n +1 known missense c.10690 p.G3564R 0.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 72 0 0.00 69 18 20.69 - - - WDR81 0 genome.wustl.edu 37 17 1630415 1630415 + Missense_Mutation SNP T T G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 17 1630415 1630415 T G SNP WDR81 ENST00000409644 human ensembl 69_37n +1 known missense c.2162 p.L721R 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 22 0 0.00 22 8 25.81 - - - ZFHX4 0 genome.wustl.edu 37 8 77761274 77761274 + Silent SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 8 77761274 77761274 G C SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known silent c.3555 p.G1185 0.991 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 65 0 0.00 92 12 11.54 - - - ZNF365 0 genome.wustl.edu 37 10 64136169 64136169 + Missense_Mutation SNP C C A TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 10 64136169 64136169 C A SNP ZNF365 ENST00000410046 human ensembl 69_37n +1 known missense c.217 p.L73I 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 148 0 0.00 121 29 19.33 - - - ZNF460 0 genome.wustl.edu 37 19 57803047 57803047 + Missense_Mutation SNP G G C TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 19 57803047 57803047 G C SNP ZNF460 ENST00000360338 human ensembl 69_37n +1 known missense c.1138 p.V380L 0.037 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 ZNF460 HGNC ENSG00000197714 182 0 0.00 109 27 19.85 - - - ZP2 0 genome.wustl.edu 37 16 21209118 21209118 + Missense_Mutation SNP C C G TCGA-AO-A129-01A-21D-A10M-09 TCGA-AO-A129-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cdf43c25-3ba7-4073-a92d-4a97f651f4a8 c60ba4ed-706e-4e4b-bfcc-8ec36ff0fbd8 16 21209118 21209118 C G SNP ZP2 ENST00000219593 human ensembl 69_37n -1 known missense c.2064 p.R688S 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP2 HGNC ENSG00000103310 328 1 0.30 317 45 12.43 - - -