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 ABCA4 0 genome.wustl.edu 37 1 94520718 94520718 + Missense_Mutation SNP C C A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 1 94520718 94520718 C A SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.2536 p.D846Y 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 76 0 0.00 45 20 30.77 - - - ACBD4 0 genome.wustl.edu 37 17 43213950 43213950 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 17 43213950 43213950 C T SNP ACBD4 ENST00000431281 human ensembl 69_37n +1 known missense c.172 p.R58W 0.987 pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 41 0 0.00 5 12 70.59 - - - ADAM18 0 genome.wustl.edu 37 8 39495190 39495190 + Silent SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 8 39495190 39495190 C T SNP ADAM18 ENST00000265707 human ensembl 69_37n +1 known silent c.795 p.I265 0.001 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 - no_errors ADAM18 HGNC ENSG00000168619 121 0 0.00 120 30 20.00 - - - ANKRD30A 0 genome.wustl.edu 37 10 37508553 37508553 + Nonsense_Mutation SNP G G T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 10 37508553 37508553 G T SNP ANKRD30A ENST00000361713 human ensembl 69_37n +1 known nonsense c.3745 p.E1249* 0.024 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 80 0 0.00 85 12 12.37 - - - ARSK 0 genome.wustl.edu 37 5 94936385 94936385 + Missense_Mutation SNP G G A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 5 94936385 94936385 G A SNP ARSK ENST00000504873 human ensembl 69_37n +1 known missense c.1153 p.G385R 0.001 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 21 0 0.00 21 10 32.26 - - - ATP2B3 0 genome.wustl.edu 37 X 152807837 152807837 + Missense_Mutation SNP G G A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 X 152807837 152807837 G A SNP ATP2B3 ENST00000263519 human ensembl 69_37n +1 known missense c.721 p.E241K 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 43 0 0.00 26 15 36.59 - - - CACNA1A 0 genome.wustl.edu 37 19 13565940 13565940 + Missense_Mutation SNP G G T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 19 13565940 13565940 G T SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.380 p.T127N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 90 0 0.00 64 19 22.89 - - - CCAR1 0 genome.wustl.edu 37 10 70507134 70507134 + Nonsense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 10 70507134 70507134 C T SNP CCAR1 ENST00000265872 human ensembl 69_37n +1 known nonsense c.637 p.Q213* 1.000 superfamily_NA-bd_OB-fold-like pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors CCAR1 HGNC ENSG00000060339 104 1 0.95 16 38 70.37 - - - EED 0 genome.wustl.edu 37 11 85966327 85966327 + Missense_Mutation SNP G G A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 11 85966327 85966327 G A SNP EED ENST00000263360 human ensembl 69_37n +1 known missense c.424 p.D142N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 168 1 0.59 131 35 21.08 - - - EYS 0 genome.wustl.edu 37 6 65767562 65767562 + Silent SNP G G T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 6 65767562 65767562 G T SNP EYS ENST00000370616 human ensembl 69_37n -1 known silent c.2082 p.A694 0.853 pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 142 0 0.00 92 14 13.21 - - - F2R 0 genome.wustl.edu 37 5 76028288 76028288 + Missense_Mutation SNP C C G TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 5 76028288 76028288 C G SNP F2R ENST00000319211 human ensembl 69_37n +1 known missense c.238 p.L80V 0.000 NULL pfam_7TM_GPCR_Rhodpsn,prints_Thrmbn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors F2R HGNC ENSG00000181104 110 0 0.00 112 33 22.76 - - - FAT4 0 genome.wustl.edu 37 4 126328230 126328230 + Missense_Mutation SNP A A C TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 4 126328230 126328230 A C SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.5503 p.N1835H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 45 0 0.00 59 7 10.61 - - - FOXP1 0 genome.wustl.edu 37 3 71161786 71161786 + Silent SNP T T C TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 3 71161786 71161786 T C SNP FOXP1 ENST00000318789 human ensembl 69_37n -1 known silent c.183 p.A61 0.460 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 135 0 0.00 59 31 33.70 - - - HEATR7B2 0 genome.wustl.edu 37 5 41049479 41049479 + Missense_Mutation SNP C C A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 5 41049479 41049479 C A SNP HEATR7B2 ENST00000399564 human ensembl 69_37n -1 known missense c.1404 p.E468D 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC ENSG00000171495 62 0 0.00 65 24 26.97 - - - HECW1 0 genome.wustl.edu 37 7 43506115 43506115 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 7 43506115 43506115 C T SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known missense c.2861 p.A954V 0.996 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 83 0 0.00 60 74 55.22 - - - HUWE1 0 genome.wustl.edu 37 X 53588774 53588774 + Missense_Mutation SNP G G A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 X 53588774 53588774 G A SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.7450 p.R2484C 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 103 0 0.00 79 42 34.71 - - - ITIH6 0 genome.wustl.edu 37 X 54817311 54817311 + Missense_Mutation SNP G G A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 X 54817311 54817311 G A SNP ITIH6 ENST00000218436 human ensembl 69_37n -1 known missense c.575 p.P192L 0.003 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 68 0 0.00 37 9 19.57 - - - KCNG4 0 genome.wustl.edu 37 16 84270709 84270709 + Missense_Mutation SNP G G A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 16 84270709 84270709 G A SNP KCNG4 ENST00000308251 human ensembl 69_37n -1 known missense c.383 p.A128V 0.996 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 44 0 0.00 14 8 34.78 - - - KCTD8 0 genome.wustl.edu 37 4 44177076 44177077 + Frame_Shift_Ins INS - - A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 4 44177076 44177077 - A INS KCTD8 ENST00000360029 human ensembl 69_37n -1 known frame_shift_ins c.1153_1152 p.N384fs 0.980:0.743 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 142 1 0.70 162 28 14.74 - - - KIF4B 0 genome.wustl.edu 37 5 154395548 154395548 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 5 154395548 154395548 C T SNP KIF4B ENST00000435029 human ensembl 69_37n +1 known missense c.2129 p.A710V 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 101 0 0.00 121 70 36.65 - - - MLNR 0 genome.wustl.edu 37 13 49796405 49796405 + Silent SNP G G A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 13 49796405 49796405 G A SNP MLNR ENST00000218721 human ensembl 69_37n +1 known silent c.1131 p.P377 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_GHS1_rcpt - no_errors MLNR HGNC ENSG00000102539 54 0 0.00 49 6 10.91 - - - NID1 0 genome.wustl.edu 37 1 236143802 236143802 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 1 236143802 236143802 C T SNP NID1 ENST00000264187 human ensembl 69_37n -1 known missense c.3379 p.D1127N 1.000 smart_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 72 0 0.00 44 20 31.25 - - - NLRP5 0 genome.wustl.edu 37 19 56515226 56515226 + Silent SNP C C G TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 19 56515226 56515226 C G SNP NLRP5 ENST00000390649 human ensembl 69_37n +1 known silent c.207 p.L69 0.038 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 99 0 0.00 98 16 14.04 - - - OR13C8 0 genome.wustl.edu 37 9 107332253 107332253 + Missense_Mutation SNP G G C TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 9 107332253 107332253 G C SNP OR13C8 ENST00000335040 human ensembl 69_37n +1 known missense c.805 p.D269H 0.003 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 OR13C8 HGNC ENSG00000186943 74 0 0.00 32 19 37.25 - - - OR6K2 0 genome.wustl.edu 37 1 158669983 158669983 + Missense_Mutation SNP T T C TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 1 158669983 158669983 T C SNP OR6K2 ENST00000359610 human ensembl 69_37n -1 known missense c.460 p.T154A 0.012 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR6K2 HGNC ENSG00000196171 80 0 0.00 54 35 39.33 - - - PLXNB2 0 genome.wustl.edu 37 22 50719361 50719361 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 22 50719361 50719361 C T SNP PLXNB2 ENST00000359337 human ensembl 69_37n -1 known missense c.3805 p.E1269K 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 77 0 0.00 8 19 70.37 - - - RAB38 0 genome.wustl.edu 37 11 87908404 87908404 + Splice_Site SNP A A T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 11 87908404 87908404 A T SNP RAB38 ENST00000526372 human ensembl 69_37n -1 putative splice_site c.197+2 e1+2 1.000 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RAB38 HGNC ENSG00000123892 45 0 0.00 12 6 31.58 - - - SEC16A 0 genome.wustl.edu 37 9 139368956 139368956 + Missense_Mutation SNP C C G TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 9 139368956 139368956 C G SNP SEC16A ENST00000313050 human ensembl 69_37n -1 known missense c.3112 p.D1038H 0.193 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 24 0 0.00 19 17 47.22 - - - SEC16A 0 genome.wustl.edu 37 9 139369265 139369265 + Missense_Mutation SNP C C G TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 9 139369265 139369265 C G SNP SEC16A ENST00000313050 human ensembl 69_37n -1 known missense c.2803 p.E935Q 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 40 0 0.00 82 44 34.92 - - - SEC16A 0 genome.wustl.edu 37 9 139369436 139369436 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 9 139369436 139369436 C T SNP SEC16A ENST00000313050 human ensembl 69_37n -1 known missense c.2632 p.D878N 0.536 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 35 0 0.00 51 23 31.08 - - - SEMA3C 0 genome.wustl.edu 37 7 80418832 80418834 + In_Frame_Del DEL CTC CTC - TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 7 80418832 80418834 CTC - DEL SEMA3C ENST00000544525 human ensembl 69_37n -1 known in_frame_del c.1198_1196 p.G399in_frame_del 1.000:1.000:1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ig_I-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3C HGNC ENSG00000075223 70 0 0.00 54 35 38.89 - - - SEPT14 0 genome.wustl.edu 37 7 55914275 55914275 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 7 55914275 55914275 C T SNP SEPT14 ENST00000388975 human ensembl 69_37n -1 known missense c.110 p.C37Y 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 93 0 0.00 50 31 38.27 - - - SLC25A3P1 0 genome.wustl.edu 37 1 53904389 53904389 + RNA SNP G G C TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 1 53904389 53904389 G C SNP SLC25A3P1 ENST00000562700 human ensembl 69_37n -1 known rna NULL NULL 0.879 - - - no_errors SLC25A3P1 HGNC ENSG00000236253 8 0 0.00 7 6 46.15 - - - STAT2 0 genome.wustl.edu 37 12 56737619 56737619 + Missense_Mutation SNP C C A TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 12 56737619 56737619 C A SNP STAT2 ENST00000314128 human ensembl 69_37n -1 known missense c.2403 p.E801D 0.000 pfam_STAT2_C pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 101 1 0.98 74 53 41.41 - - - ZNF598 0 genome.wustl.edu 37 16 2048316 2048316 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 16 2048316 2048316 C T SNP ZNF598 ENST00000431526 human ensembl 69_37n -1 known missense c.2632 p.D878N 0.998 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 47 0 0.00 13 8 38.10 - - - ZNF700 0 genome.wustl.edu 37 19 12060223 12060223 + Missense_Mutation SNP C C G TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 19 12060223 12060223 C G SNP ZNF700 ENST00000254321 human ensembl 69_37n +1 known missense c.1384 p.R462G 0.008 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 ZNF700 HGNC ENSG00000196757 82 0 0.00 110 54 32.93 - - - ZNF804B 0 genome.wustl.edu 37 7 88956679 88956679 + Missense_Mutation SNP C C T TCGA-BH-A1FM-01A-11D-A13L-09 TCGA-BH-A1FM-11B-23D-A188-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7cb17736-03da-4f77-8397-145585a25b1e e50ac0fd-6812-4747-b18d-243a19c00af5 7 88956679 88956679 C T SNP ZNF804B ENST00000333190 human ensembl 69_37n +1 known missense c.271 p.R91W 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 79 0 0.00 52 13 20.00 - - -