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 ACTL9 0 genome.wustl.edu 37 19 8808585 8808585 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 19 8808585 8808585 G C SNP ACTL9 ENST00000324436 human ensembl 69_37n -1 known missense c.467 p.A156G 0.998 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL9 HGNC ENSG00000181786 13 0 0.00 14 5 26.32 - - - ADAM20 0 genome.wustl.edu 37 14 70989944 70989944 + Missense_Mutation SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 14 70989944 70989944 G T SNP ADAM20 ENST00000256389 human ensembl 69_37n -1 known missense c.1681 p.H561N 0.805 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 54 0 0.00 49 6 10.91 - - - ADCY10 0 genome.wustl.edu 37 1 167778922 167778922 + Missense_Mutation SNP T T G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 167778922 167778922 T G SNP ADCY10 ENST00000367851 human ensembl 69_37n -1 known missense c.4826 p.H1609P 0.897 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 54 0 0.00 104 35 25.18 - - - AOC4 0 genome.wustl.edu 37 17 41020744 41020744 + RNA SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 17 41020744 41020744 C T SNP AOC4 ENST00000562301 human ensembl 69_37n +1 known rna NULL NULL 0.952 - - - no_errors AOC4 Clone_based_vega_gene ENSG00000260105 26 0 0.00 8 11 57.89 - - - ARPP21 0 genome.wustl.edu 37 3 35725220 35725220 + Silent SNP A A G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 3 35725220 35725220 A G SNP ARPP21 ENST00000417925 human ensembl 69_37n +1 known silent c.174 p.S58 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 47 0 0.00 14 12 46.15 - - - ATP13A4 0 genome.wustl.edu 37 3 193182727 193182727 + Splice_Site SNP A A T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 3 193182727 193182727 A T SNP ATP13A4 ENST00000342695 human ensembl 69_37n -1 known splice_site c.1461+2 e12+2 1.000 - - - no_errors ATP13A4 HGNC ENSG00000127249 28 0 0 57 8 12.12 - - - ATP1A4 0 genome.wustl.edu 37 1 160145985 160145985 + Silent SNP C C A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 160145985 160145985 C A SNP ATP1A4 ENST00000368081 human ensembl 69_37n +1 known silent c.2415 p.P805 0.997 pfam_ATPase_P-typ_cation-transptr_C,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A4 HGNC ENSG00000132681 67 0 0.00 91 24 20.87 - - - C12orf74 0 genome.wustl.edu 37 12 93100671 93100671 + Silent SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 12 93100671 93100671 G A SNP C12orf74 ENST00000397833 human ensembl 69_37n +1 known silent c.264 p.L88 0.001 NULL NULL - no_errors C12orf74 HGNC ENSG00000214215 13 0 0.00 13 8 38.10 - - - C2orf71 0 genome.wustl.edu 37 2 29295725 29295725 + Missense_Mutation SNP T T C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 2 29295725 29295725 T C SNP C2orf71 ENST00000331664 human ensembl 69_37n -1 novel missense c.1403 p.H468R 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 31 0 0.00 45 12 21.05 - - - CACNA1C-AS1 0 genome.wustl.edu 37 12 2786827 2786827 + RNA SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 12 2786827 2786827 C T SNP CACNA1C-AS1 ENST00000501371 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 13 0 0.00 18 9 33.33 - - - CBL 0 genome.wustl.edu 37 11 119170209 119170209 + Silent SNP C C A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 11 119170209 119170209 C A SNP CBL ENST00000264033 human ensembl 69_37n +1 known silent c.2439 p.V813 0.996 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 19 0 0.00 15 9 37.50 - - - CDH19 0 genome.wustl.edu 37 18 64239349 64239349 + Silent SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 18 64239349 64239349 G A SNP CDH19 ENST00000262150 human ensembl 69_37n -1 known silent c.93 p.V31 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH19 HGNC ENSG00000071991 54 0 0.00 99 34 25.56 - - - CHRFAM7A 0 genome.wustl.edu 37 15 30664509 30664509 + Missense_Mutation SNP A A C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 15 30664509 30664509 A C SNP CHRFAM7A ENST00000299847 human ensembl 69_37n -1 known missense c.364 p.C122G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 17 0 0.00 7 11 61.11 - - - COL18A1 0 genome.wustl.edu 37 21 46925826 46925826 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 21 46925826 46925826 G C SNP COL18A1 ENST00000423214 human ensembl 69_37n +1 putative missense c.149 p.W50S 0.284 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region COL18A1 HGNC ENSG00000182871 28 0 0.00 56 15 21.13 - - - COL9A2 0 genome.wustl.edu 37 1 40776400 40776400 + Missense_Mutation SNP T T A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 40776400 40776400 T A SNP COL9A2 ENST00000372748 human ensembl 69_37n -1 known missense c.670 p.I224F 1.000 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 33 0 0.00 62 10 13.89 - - - CSMD2 0 genome.wustl.edu 37 1 34498201 34498201 + Missense_Mutation SNP A A G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 34498201 34498201 A G SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.511 p.Y171H 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB 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 31 0 0.00 44 10 18.52 - - - DCC 0 genome.wustl.edu 37 18 50918111 50918111 + Missense_Mutation SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 18 50918111 50918111 G T SNP DCC ENST00000442544 human ensembl 69_37n +1 known missense c.2542 p.V848L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC ENSG00000187323 37 0 0.00 30 4 11.76 - - - DENND2C 0 genome.wustl.edu 37 1 115168068 115168068 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 115168068 115168068 C T SNP DENND2C ENST00000393274 human ensembl 69_37n -1 known missense c.538 p.V180I 0.949 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2C HGNC ENSG00000175984 43 0 0.00 28 5 15.15 - - - DICER1 0 genome.wustl.edu 37 14 95582139 95582139 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 14 95582139 95582139 G C SNP DICER1 ENST00000343455 human ensembl 69_37n -1 known missense c.1772 p.S591C 1.000 pfscan_Helicase_C pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 47 0 0.00 34 17 33.33 - - - DLC1 0 genome.wustl.edu 37 8 12956004 12956005 + Frame_Shift_Ins INS - - T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 8 12956004 12956005 - T INS DLC1 ENST00000276297 human ensembl 69_37n -1 known frame_shift_ins c.3071_3070 p.S1024fs 1.000:1.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 55 0 0.00 25 11 30.56 - - - DOCK3 0 genome.wustl.edu 37 3 51263131 51263131 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 3 51263131 51263131 G C SNP DOCK3 ENST00000266037 human ensembl 69_37n +1 known missense c.1304 p.R435T 1.000 NULL pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 47 0 0.00 49 14 22.22 - - - DST 0 genome.wustl.edu 37 6 56473334 56473334 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 6 56473334 56473334 G C SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.5993 p.T1998S 0.999 pfam_Plectin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 42 0 0.00 31 17 35.42 - - - EEF1D 0 genome.wustl.edu 37 8 144662368 144662368 + Nonstop_Mutation SNP A A G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 8 144662368 144662368 A G SNP EEF1D ENST00000530109 human ensembl 69_37n -1 putative nonstop c.244 p.*82R 0.985 pfam_Transl_elong_fac_EF1B_bsu/dsu,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EEF1D HGNC ENSG00000104529 29 0 0.00 38 9 19.15 - - - EHD1 0 genome.wustl.edu 37 11 64622246 64622246 + Silent SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 11 64622246 64622246 G A SNP EHD1 ENST00000320631 human ensembl 69_37n -1 known silent c.1164 p.N388 0.997 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 25 0 0.00 43 22 33.85 - - - ELFN2 0 genome.wustl.edu 37 22 37771398 37771398 + Missense_Mutation SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 22 37771398 37771398 G T SNP ELFN2 ENST00000349653 human ensembl 69_37n -1 known missense c.177 p.D59E 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor - no_errors ELFN2 HGNC ENSG00000166897 54 0 0.00 114 48 29.45 - - - ETS2 0 genome.wustl.edu 37 21 40191520 40191520 + Nonsense_Mutation SNP T T A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 21 40191520 40191520 T A SNP ETS2 ENST00000360214 human ensembl 69_37n +1 known nonsense c.905 p.L302* 0.998 pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS2 HGNC ENSG00000157557 40 0 0.00 64 13 16.88 - - - FAM5C 0 genome.wustl.edu 37 1 190067723 190067723 + Missense_Mutation SNP A A C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 190067723 190067723 A C SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known missense c.1726 p.F576V 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 32 0 0.00 54 15 21.74 - - - FATE1 0 genome.wustl.edu 37 X 150889973 150889973 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 X 150889973 150889973 G C SNP FATE1 ENST00000370350 human ensembl 69_37n +1 known missense c.341 p.R114P 0.016 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 36 0 0.00 18 7 28.00 - - - FCER1A 0 genome.wustl.edu 37 1 159273897 159273897 + Missense_Mutation SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 159273897 159273897 G A SNP FCER1A ENST00000368115 human ensembl 69_37n +1 known missense c.256 p.E86K 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCER1A HGNC ENSG00000179639 31 0 0.00 29 9 23.68 - - - FREM3 0 genome.wustl.edu 37 4 144548913 144548913 + Missense_Mutation SNP C C A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 4 144548913 144548913 C A SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative missense c.5276 p.G1759V 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 45 0 0.00 45 11 19.64 - - - GLCCI1 0 genome.wustl.edu 37 7 8126035 8126035 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 7 8126035 8126035 C T SNP GLCCI1 ENST00000223145 human ensembl 69_37n +1 known missense c.1511 p.T504M 0.062 NULL NULL - no_errors GLCCI1 HGNC ENSG00000106415 45 0 0.00 41 11 21.15 - - - HCFC2 0 genome.wustl.edu 37 12 104459971 104459971 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 12 104459971 104459971 G C SNP HCFC2 ENST00000229330 human ensembl 69_37n +1 known missense c.190 p.V64L 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 50 0 0.00 44 18 29.03 - - - IGFALS 0 genome.wustl.edu 37 16 1840820 1840820 + Silent SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 16 1840820 1840820 C T SNP IGFALS ENST00000415638 human ensembl 69_37n -1 known silent c.1713 p.L571 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 12 0 0.00 14 5 26.32 - - - IGHV1-46 0 genome.wustl.edu 37 14 106967297 106967297 + Missense_Mutation SNP C C A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 14 106967297 106967297 C A SNP IGHV1-46 ENST00000390622 human ensembl 69_37n -1 known missense c.103 p.A35S 0.025 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-46 HGNC ENSG00000211962 56 0 0.00 74 17 18.68 - - - IQGAP3 0 genome.wustl.edu 37 1 156532441 156532441 + Missense_Mutation SNP T T A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 156532441 156532441 T A SNP IQGAP3 ENST00000361170 human ensembl 69_37n -1 known missense c.815 p.Q272L 0.986 NULL 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_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 78 0 0.00 240 40 14.29 - - - KCNA4 0 genome.wustl.edu 37 11 30033730 30033730 + Missense_Mutation SNP A A T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 11 30033730 30033730 A T SNP KCNA4 ENST00000328224 human ensembl 69_37n -1 known missense c.496 p.Y166N 1.000 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 35 0 0.00 32 8 20.00 - - - KCNJ10 0 genome.wustl.edu 37 1 160011189 160011189 + Silent SNP A A G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 160011189 160011189 A G SNP KCNJ10 ENST00000368089 human ensembl 69_37n -1 known silent c.1134 p.N378 0.414 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 36 0 0.00 55 10 15.38 - - - KIAA1549L 0 genome.wustl.edu 37 11 33596315 33596315 + Missense_Mutation SNP A A G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 11 33596315 33596315 A G SNP KIAA1549L ENST00000389726 human ensembl 69_37n +1 known missense c.3425 p.N1142S 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 38 0 0.00 43 8 15.69 - - - KPNA7 0 genome.wustl.edu 37 7 98782623 98782623 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 7 98782623 98782623 C T SNP KPNA7 ENST00000327442 human ensembl 69_37n -1 known missense c.1063 p.G355R 0.995 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA7 HGNC ENSG00000185467 35 0 0.00 63 13 17.11 - - - KRT76 0 genome.wustl.edu 37 12 53169205 53169205 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 12 53169205 53169205 C T SNP KRT76 ENST00000332411 human ensembl 69_37n -1 known missense c.782 p.S261N 0.770 pfam_F,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT76 HGNC ENSG00000185069 47 0 0.00 25 15 37.50 - - - LCE3A 0 genome.wustl.edu 37 1 152595499 152595499 + Silent SNP T T G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 152595499 152595499 T G SNP LCE3A ENST00000335674 human ensembl 69_37n -1 known silent c.81 p.P27 0.002 NULL NULL - no_errors LCE3A HGNC ENSG00000185962 41 0 0.00 134 19 12.42 - - - LRRC15 0 genome.wustl.edu 37 3 194081730 194081730 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 3 194081730 194081730 C T SNP LRRC15 ENST00000439944 human ensembl 69_37n -1 known missense c.61 p.A21T 0.707 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 22 0 0.00 23 6 20.69 - - - LRRC66 0 genome.wustl.edu 37 4 52861775 52861775 + Silent SNP A A T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 4 52861775 52861775 A T SNP LRRC66 ENST00000343457 human ensembl 69_37n -1 known silent c.1413 p.P471 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 41 0 0.00 68 17 20.00 - - - MMP9 0 genome.wustl.edu 37 20 44639885 44639885 + Silent SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 20 44639885 44639885 C T SNP MMP9 ENST00000372330 human ensembl 69_37n +1 known silent c.753 p.D251 1.000 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP9 HGNC ENSG00000100985 17 0 0.00 11 6 35.29 - - - MRPS5 0 genome.wustl.edu 37 2 95775737 95775737 + Silent SNP T T C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 2 95775737 95775737 T C SNP MRPS5 ENST00000272418 human ensembl 69_37n -1 known silent c.327 p.G109 0.998 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 52 0 0.00 64 39 37.86 - - - MYOF 0 genome.wustl.edu 37 10 95072909 95072909 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 10 95072909 95072909 G C SNP MYOF ENST00000359263 human ensembl 69_37n -1 known missense c.5757 p.C1919W 0.961 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC ENSG00000138119 75 0 0.00 109 20 15.38 - - - NCKAP5L 0 genome.wustl.edu 37 12 50188850 50188850 + Nonsense_Mutation SNP C C A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 12 50188850 50188850 C A SNP NCKAP5L ENST00000433948 human ensembl 69_37n -1 putative nonsense c.1936 p.E646* 0.950 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NCKAP5L HGNC ENSG00000167566 33 0 0.00 13 10 43.48 - - - NOS1 0 genome.wustl.edu 37 12 117691526 117691526 + Silent SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 12 117691526 117691526 G T SNP NOS1 ENST00000317775 human ensembl 69_37n -1 known silent c.2565 p.S855 0.016 pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 45 0 0.00 27 25 48.08 - - - NOTCH2 0 genome.wustl.edu 37 1 120458436 120458436 + Frame_Shift_Del DEL G G - TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 120458436 120458436 G - DEL NOTCH2 ENST00000256646 human ensembl 69_37n -1 known frame_shift_del c.6909 p.I2304fs 0.957 pirsf_Notch,prints_Notch_2 pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 24 0 0.00 15 16 48.48 - - - NOTCH4 0 genome.wustl.edu 37 6 32188550 32188550 + Missense_Mutation SNP C C A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 6 32188550 32188550 C A SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known missense c.905 p.C302F 1.000 pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 26 0 0.00 44 19 30.16 - - - OR8B2 0 genome.wustl.edu 37 11 124252388 124252388 + Silent SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 11 124252388 124252388 G A SNP OR8B2 ENST00000375013 human ensembl 69_37n -1 known silent c.852 p.L284 0.460 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 41 0 0.00 50 34 40.00 - - - P2RX5 0 genome.wustl.edu 37 17 3593780 3593780 + Missense_Mutation SNP C C G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 17 3593780 3593780 C G SNP P2RX5 ENST00000435558 human ensembl 69_37n -1 known missense c.474 p.L158F 0.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 24 0 0.00 35 18 33.96 - - - PAPPA2 0 genome.wustl.edu 37 1 176564589 176564589 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 176564589 176564589 C T SNP PAPPA2 ENST00000367662 human ensembl 69_37n +1 known missense c.1849 p.R617C 1.000 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 34 0 0.00 54 7 11.48 - - - PCDHA1 0 genome.wustl.edu 37 5 140167566 140167566 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 5 140167566 140167566 C T SNP PCDHA1 ENST00000504120 human ensembl 69_37n +1 known missense c.1691 p.A564V 0.003 superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 24 0 0.00 16 16 48.48 - - - PCNXL4 0 genome.wustl.edu 37 14 60592455 60592455 + Missense_Mutation SNP A A C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 14 60592455 60592455 A C SNP PCNXL4 ENST00000404681 human ensembl 69_37n +1 known missense c.3181 p.I1061L 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 42 0 0.00 36 19 34.55 - - - PCSK6 0 genome.wustl.edu 37 15 101910615 101910615 + Nonsense_Mutation SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 15 101910615 101910615 G T SNP PCSK6 ENST00000348070 human ensembl 69_37n -1 known nonsense c.1643 p.S548* 0.857 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel,pfscan_PLAC - no_errors PCSK6 HGNC ENSG00000140479 26 0 0.00 28 7 20.00 - - - PDGFB 0 genome.wustl.edu 37 22 39621808 39621808 + Missense_Mutation SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 22 39621808 39621808 G A SNP PDGFB ENST00000331163 human ensembl 69_37n -1 known missense c.646 p.R216C 1.000 NULL pfam_PD_growth_factor,pfam_PDGF_N,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors PDGFB HGNC ENSG00000100311 47 0 0.00 40 18 31.03 - - - PEX1 0 genome.wustl.edu 37 7 92122328 92122328 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 7 92122328 92122328 G C SNP PEX1 ENST00000248633 human ensembl 69_37n -1 known missense c.3146 p.A1049G 1.000 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 39 0 0.00 50 14 21.88 - - - PEX26 0 genome.wustl.edu 37 22 18562666 18562666 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 22 18562666 18562666 G C SNP PEX26 ENST00000329627 human ensembl 69_37n +1 known missense c.257 p.C86S 1.000 pfam_Pex26 pfam_Pex26 - no_errors PEX26 HGNC ENSG00000215193 55 0 0.00 80 24 23.08 - - - PHLDA1 0 genome.wustl.edu 37 12 76424952 76424952 + Missense_Mutation SNP C C G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 12 76424952 76424952 C G SNP PHLDA1 ENST00000266671 human ensembl 69_37n -1 known missense c.570 p.Q190H 0.996 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 25 0 0.00 23 6 20.69 - - - PIPSL 0 genome.wustl.edu 37 10 95721266 95721266 + RNA DEL C C - TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 10 95721266 95721266 C - DEL PIPSL ENST00000480546 human ensembl 69_37n -1 putative rna NULL NULL 0.852 - - - no_errors PIPSL HGNC ENSG00000180764 43 0 0.00 32 9 21.43 - - - PPP1R15B 0 genome.wustl.edu 37 1 204379798 204379798 + Missense_Mutation SNP C C G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 204379798 204379798 C G SNP PPP1R15B ENST00000367188 human ensembl 69_37n -1 known missense c.742 p.V248L 0.006 pfam_Prot_Pase1_reg-su15B_N pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15B HGNC ENSG00000158615 31 0 0.00 60 7 10.45 - - - PTPRB 0 genome.wustl.edu 37 12 70970306 70970306 + Missense_Mutation SNP C C G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 12 70970306 70970306 C G SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known missense c.2698 p.G900R 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 41 0 0.00 72 8 10.00 - - - RHBDF2 0 genome.wustl.edu 37 17 74469974 74469974 + Nonsense_Mutation SNP C C A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 17 74469974 74469974 C A SNP RHBDF2 ENST00000313080 human ensembl 69_37n -1 known nonsense c.1672 p.E558* 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC ENSG00000129667 26 0 0.00 31 5 13.89 - - - RNF208 0 genome.wustl.edu 37 9 140115554 140115554 + Missense_Mutation SNP G G C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 9 140115554 140115554 G C SNP RNF208 ENST00000391553 human ensembl 69_37n -1 known missense c.111 p.H37Q 1.000 NULL pfscan_Znf_RING - no_errors RNF208 HGNC ENSG00000212864 16 0 0.00 4 11 73.33 - - - RPLP0P2 0 genome.wustl.edu 37 11 61404585 61404585 + RNA SNP C C G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 11 61404585 61404585 C G SNP RPLP0P2 ENST00000496593 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 27 0 0.00 35 9 20.45 - - - RTN4 0 genome.wustl.edu 37 2 55252437 55252437 + Missense_Mutation SNP C C G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 2 55252437 55252437 C G SNP RTN4 ENST00000337526 human ensembl 69_37n -1 known missense c.2798 p.S933T 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 50 0 0.00 52 15 22.39 - - - RYR1 0 genome.wustl.edu 37 19 38979876 38979876 + Missense_Mutation SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 19 38979876 38979876 G T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.5607 p.E1869D 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 54 0 0.00 64 10 13.51 - - - SCML4 0 genome.wustl.edu 37 6 108067977 108067977 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 6 108067977 108067977 C T SNP SCML4 ENST00000369021 human ensembl 69_37n -1 known missense c.316 p.V106I 0.989 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 14 0 0.00 23 6 20.69 - - - SCUBE3 0 genome.wustl.edu 37 6 35213839 35213839 + Silent SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 6 35213839 35213839 C T SNP SCUBE3 ENST00000394681 human ensembl 69_37n +1 known silent c.2766 p.A922 0.992 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,prints_Thrombomodulin,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE3 HGNC ENSG00000146197 52 0 0.00 53 13 19.40 - - - SETD2 0 genome.wustl.edu 37 3 47164556 47164556 + Missense_Mutation SNP T T G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 3 47164556 47164556 T G SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known missense c.1570 p.N524H 1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 44 0 0.00 50 15 23.08 - - - SHISA7 0 genome.wustl.edu 37 19 55952018 55952018 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 19 55952018 55952018 C T SNP SHISA7 ENST00000416792 human ensembl 69_37n -1 novel missense c.260 p.R87H 0.880 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SHISA7 HGNC ENSG00000187902 36 0 0.00 55 7 11.29 - - - SLC36A1 0 genome.wustl.edu 37 5 150846797 150846797 + Nonsense_Mutation SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 5 150846797 150846797 G T SNP SLC36A1 ENST00000243389 human ensembl 69_37n +1 known nonsense c.457 p.G153* 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 87 0 0.00 74 24 24.49 - - - SLC38A7 0 genome.wustl.edu 37 16 58712260 58712260 + Missense_Mutation SNP C C A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 16 58712260 58712260 C A SNP SLC38A7 ENST00000219320 human ensembl 69_37n -1 known missense c.588 p.E196D 1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 59 0 0.00 46 17 26.98 - - - SLC9A3 0 genome.wustl.edu 37 5 485334 485334 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 5 485334 485334 C T SNP SLC9A3 ENST00000264938 human ensembl 69_37n -1 known missense c.688 p.V230M 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 42 0 0.00 55 27 32.93 - - - SPTB 0 genome.wustl.edu 37 14 65267588 65267588 + Splice_Site SNP T T G TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 14 65267588 65267588 T G SNP SPTB ENST00000389722 human ensembl 69_37n -1 known splice_site c.764-2 e7-2 1.000 - - - no_errors SPTB HGNC ENSG00000070182 41 0 0.00 51 17 25.00 - - - ST6GALNAC1 0 genome.wustl.edu 37 17 74623249 74623249 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 17 74623249 74623249 C T SNP ST6GALNAC1 ENST00000156626 human ensembl 69_37n -1 known missense c.1072 p.G358R 0.020 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 12 0 0.00 31 10 24.39 - - - STAM2 0 genome.wustl.edu 37 2 153000517 153000517 + Missense_Mutation SNP T T A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 2 153000517 153000517 T A SNP STAM2 ENST00000263904 human ensembl 69_37n -1 known missense c.528 p.L176F 1.000 pfam_Ubiquitin-int_motif,superfamily_SH3_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 79 0 0.00 89 59 39.86 - - - TCHH 0 genome.wustl.edu 37 1 152081930 152081930 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 1 152081930 152081930 C T SNP TCHH ENST00000368804 human ensembl 69_37n -1 known missense c.3763 p.D1255N 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC ENSG00000159450 42 0 0.00 121 22 15.38 - - - TMEM218 0 genome.wustl.edu 37 11 124971139 124971140 + Frame_Shift_Ins INS - - A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 11 124971139 124971140 - A INS TMEM218 ENST00000455225 human ensembl 69_37n -1 known frame_shift_ins c.171_170 p.R59fs 0.993:0.998 NULL NULL - no_errors TMEM218 HGNC ENSG00000150433 35 0 0.00 60 12 16.67 - - - TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 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 34 0 0.00 14 25 62.50 - - - USP28 0 genome.wustl.edu 37 11 113704197 113704197 + Missense_Mutation SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 11 113704197 113704197 G A SNP USP28 ENST00000003302 human ensembl 69_37n -1 known missense c.704 p.P235L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19 - no_errors USP28 HGNC ENSG00000048028 49 0 0.00 28 34 54.84 - - - ZNF44 0 genome.wustl.edu 37 19 12384316 12384316 + Missense_Mutation SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 19 12384316 12384316 G A SNP ZNF44 ENST00000393337 human ensembl 69_37n -1 known missense c.898 p.P300S 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 72 0 0.00 91 38 29.46 - - - ZNF511 0 genome.wustl.edu 37 10 135165568 135165568 + Silent SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 10 135165568 135165568 G T SNP ZNF511 ENST00000368554 human ensembl 69_37n +1 known silent c.663 p.L221 0.000 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 26 0 0.00 25 5 16.67 - - - ZNF511 0 genome.wustl.edu 37 10 135165631 135165631 + Silent SNP C C T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 10 135165631 135165631 C T SNP ZNF511 ENST00000368554 human ensembl 69_37n +1 known silent c.726 p.G242 0.000 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ENSG00000198546 23 0 0.00 24 5 17.24 - - - ZNF552 0 genome.wustl.edu 37 19 58319711 58319711 + Missense_Mutation SNP G G T TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 19 58319711 58319711 G T SNP ZNF552 ENST00000391701 human ensembl 69_37n -1 known missense c.921 p.H307Q 0.000 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 ZNF552 HGNC ENSG00000178935 71 0 0.00 57 14 19.72 - - - ZNF729 0 genome.wustl.edu 37 19 22497241 22497241 + Missense_Mutation SNP T T C TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 19 22497241 22497241 T C SNP ZNF729 ENST00000357491 human ensembl 69_37n +1 known missense c.1022 p.I341T 0.022 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_stop_codon ZNF729 HGNC ENSG00000196350 18 0 0.00 7 5 41.67 - - - ZP2 0 genome.wustl.edu 37 16 21221500 21221500 + Silent SNP G G A TCGA-E9-A244-01A-11D-A167-09 TCGA-E9-A244-10A-01D-A167-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9edf63e8-ae94-4b2f-8521-b56dadc21cd5 c067e16d-40af-44b1-bb55-b8c71ed021d3 16 21221500 21221500 G A SNP ZP2 ENST00000219593 human ensembl 69_37n -1 known silent c.165 p.C55 0.573 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 39 0 0.00 68 16 19.05 - - -