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 ATG2A 0 genome.wustl.edu 37 11 64674264 64674264 + Missense_Mutation SNP C C T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 11 64674264 64674264 C T SNP ATG2A ENST00000418259 human ensembl 69_37n -1 novel missense c.2260 p.G754S 0.802 NULL pfam_Autophagy-rel_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATG2A HGNC ENSG00000110046 47 0 0.00 57 7 10.94 - - - ATG2A 0 genome.wustl.edu 37 11 64674996 64674996 + Splice_Site SNP C C G TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 11 64674996 64674996 C G SNP ATG2A ENST00000421419 human ensembl 69_37n -1 known splice_site c.2647+1 e18+1 1.000 - - - no_errors ATG2A HGNC ENSG00000110046 49 0 0.00 46 9 16.36 - - - ATP10B 0 genome.wustl.edu 37 5 160034008 160034008 + Missense_Mutation SNP C C T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 5 160034008 160034008 C T SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.2924 p.G975E 0.664 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 96 0 0.00 87 18 17.14 - - - CAMK1G 0 genome.wustl.edu 37 1 209784824 209784824 + Missense_Mutation SNP C C G TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 1 209784824 209784824 C G SNP CAMK1G ENST00000009105 human ensembl 69_37n +1 known missense c.842 p.T281R 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK1G HGNC ENSG00000008118 81 0 0.00 82 11 11.83 - - - CELF2 0 genome.wustl.edu 37 10 11330504 11330504 + Missense_Mutation SNP T T A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 10 11330504 11330504 T A SNP CELF2 ENST00000450189 human ensembl 69_37n +1 known missense c.965 p.L322H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 47 0 0.00 60 18 23.08 - - - CLEC10A 0 genome.wustl.edu 37 17 6980307 6980307 + Splice_Site SNP C C A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 17 6980307 6980307 C A SNP CLEC10A ENST00000254868 human ensembl 69_37n -1 known splice_site c.185-1 e3-1 0.402 - - - no_errors CLEC10A HGNC ENSG00000132514 67 0 0.00 91 13 12.50 - - - DACT1 0 genome.wustl.edu 37 14 59112414 59112414 + Missense_Mutation SNP C C T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 14 59112414 59112414 C T SNP DACT1 ENST00000335867 human ensembl 69_37n +1 known missense c.1073 p.P358L 0.991 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 44 0 0.00 66 9 12.00 - - - DCHS2 0 genome.wustl.edu 37 4 155241643 155241643 + Silent SNP G G C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 4 155241643 155241643 G C SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known silent c.3543 p.S1181 0.361 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 181 0 0.00 244 29 10.62 - - - DUOXA2 0 genome.wustl.edu 37 15 45406842 45406842 + Silent SNP G G A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 15 45406842 45406842 G A SNP DUOXA2 ENST00000323030 human ensembl 69_37n +1 known silent c.39 p.Q13 0.004 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA2 HGNC ENSG00000140274 112 0 0.00 132 23 14.74 - - - EFCAB6 0 genome.wustl.edu 37 22 44079628 44079628 + Missense_Mutation SNP G G C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 22 44079628 44079628 G C SNP EFCAB6 ENST00000262726 human ensembl 69_37n -1 known missense c.1250 p.T417S 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFCAB6 HGNC ENSG00000186976 264 0 0.00 279 35 11.15 - - - EPPIN 0 genome.wustl.edu 37 20 44171491 44171491 + Missense_Mutation SNP G G T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 20 44171491 44171491 G T SNP EPPIN ENST00000555685 human ensembl 69_37n -1 known missense c.239 p.P80Q 0.007 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Whey_acidic_protein_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN HGNC ENSG00000101448 117 0 0.00 92 22 19.30 - - - FAM171A2 0 genome.wustl.edu 37 17 42433630 42433630 + Missense_Mutation SNP G G C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 17 42433630 42433630 G C SNP FAM171A2 ENST00000293443 human ensembl 69_37n -1 known missense c.689 p.P230R 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors FAM171A2 HGNC ENSG00000161682 31 0 0.00 34 5 12.82 - - - IGHV1-2 0 genome.wustl.edu 37 14 106452815 106452815 + Nonsense_Mutation SNP C C T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 14 106452815 106452815 C T SNP IGHV1-2 ENST00000390594 human ensembl 69_37n -1 known nonsense c.207 p.W69* 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV1-2 HGNC ENSG00000211934 200 0 0.00 225 43 16.04 - - - JHDM1D 0 genome.wustl.edu 37 7 139824558 139824558 + Frame_Shift_Del DEL T T - TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 7 139824558 139824558 T - DEL JHDM1D ENST00000397560 human ensembl 69_37n -1 known frame_shift_del c.914 p.K305fs 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 86 0 0.00 107 15 12.30 - - - KCNA5 0 genome.wustl.edu 37 12 5155008 5155008 + Missense_Mutation SNP G G C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 12 5155008 5155008 G C SNP KCNA5 ENST00000252321 human ensembl 69_37n +1 known missense c.1695 p.K565N 0.016 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 40 0 0.00 38 9 19.15 - - - KCNB1 0 genome.wustl.edu 37 20 48098719 48098719 + Missense_Mutation SNP C C T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 20 48098719 48098719 C T SNP KCNB1 ENST00000371741 human ensembl 69_37n -1 known missense c.299 p.R100H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 37 0 0.00 53 14 20.59 - - - KIAA1468 0 genome.wustl.edu 37 18 59888293 59888293 + Missense_Mutation SNP G G T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 18 59888293 59888293 G T SNP KIAA1468 ENST00000256858 human ensembl 69_37n +1 known missense c.640 p.A214S 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 144 0 0.00 127 22 14.77 - - - KIF7 0 genome.wustl.edu 37 15 90173555 90173555 + Missense_Mutation SNP G G A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 15 90173555 90173555 G A SNP KIF7 ENST00000394412 human ensembl 69_37n -1 known missense c.3281 p.S1094L 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 61 0 0.00 53 7 11.67 - - - MSTN 0 genome.wustl.edu 37 2 190924879 190924879 + Missense_Mutation SNP G G A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 2 190924879 190924879 G A SNP MSTN ENST00000260950 human ensembl 69_37n -1 known missense c.656 p.P219L 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 160 0 0.00 157 26 14.21 - - - NAP1L4 0 genome.wustl.edu 37 11 2975878 2975878 + Splice_Site SNP T T A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 11 2975878 2975878 T A SNP NAP1L4 ENST00000380542 human ensembl 69_37n -1 known splice_site c.916-2 e11-2 1.000 - - - no_errors NAP1L4 HGNC ENSG00000205531 65 0 0.00 62 16 20.51 - - - NUP133 0 genome.wustl.edu 37 1 229633915 229633915 + Missense_Mutation SNP A A G TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 1 229633915 229633915 A G SNP NUP133 ENST00000261396 human ensembl 69_37n -1 known missense c.787 p.F263L 0.156 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 53 0 0.00 46 6 11.54 - - - PTPRH 0 genome.wustl.edu 37 19 55708703 55708703 + Missense_Mutation SNP G G C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 19 55708703 55708703 G C SNP PTPRH ENST00000376350 human ensembl 69_37n -1 known missense c.1772 p.P591R 0.274 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC ENSG00000080031 67 0 0.00 71 16 18.39 - - - RPL13P5 0 genome.wustl.edu 37 12 6993151 6993151 + RNA SNP G G T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 12 6993151 6993151 G T SNP RPL13P5 ENST00000412023 human ensembl 69_37n +1 known rna NULL NULL 0.858 - - - no_errors RPL13P5 HGNC ENSG00000240370 8 0 0.00 2 5 62.50 - - - SLC16A4 0 genome.wustl.edu 37 1 110921957 110921957 + Missense_Mutation SNP G G C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 1 110921957 110921957 G C SNP SLC16A4 ENST00000369779 human ensembl 69_37n -1 known missense c.548 p.A183G 0.541 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 72 0 0.00 71 9 11.25 - - - SNX10 0 genome.wustl.edu 37 7 26412143 26412143 + Missense_Mutation SNP A A G TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 7 26412143 26412143 A G SNP SNX10 ENST00000446848 human ensembl 69_37n +1 known missense c.635 p.D212G 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX10 HGNC ENSG00000086300 132 0 0.00 182 32 14.95 - - - STAP1 0 genome.wustl.edu 37 4 68424566 68424566 + Missense_Mutation SNP G G C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 4 68424566 68424566 G C SNP STAP1 ENST00000265404 human ensembl 69_37n +1 known missense c.39 p.R13S 0.959 NULL pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC ENSG00000035720 78 0 0.00 83 13 13.54 - - - SYT14 0 genome.wustl.edu 37 1 210273640 210273640 + Missense_Mutation SNP T T C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 1 210273640 210273640 T C SNP SYT14 ENST00000422431 human ensembl 69_37n +1 known missense c.1133 p.V378A 0.992 pfam_C2_Ca-dep,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 - no_errors SYT14 HGNC ENSG00000143469 72 0 0.00 87 25 22.32 - - - TLE1 0 genome.wustl.edu 37 9 84202727 84202727 + Missense_Mutation SNP T T C TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 9 84202727 84202727 T C SNP TLE1 ENST00000376499 human ensembl 69_37n -1 known missense c.1846 p.T616A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 95 0 0.00 108 18 14.17 - - - TRPC5 0 genome.wustl.edu 37 X 111024400 111024400 + Missense_Mutation SNP T T A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 X 111024400 111024400 T A SNP TRPC5 ENST00000262839 human ensembl 69_37n -1 known missense c.2135 p.H712L 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 216 0 0.00 283 32 10.16 - - - UPF2 0 genome.wustl.edu 37 10 12077114 12077114 + Missense_Mutation SNP C C A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 10 12077114 12077114 C A SNP UPF2 ENST00000356352 human ensembl 69_37n -1 known missense c.309 p.K103N 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 443 0 0.00 549 134 19.56 - - - WNT2B 0 genome.wustl.edu 37 1 113059026 113059026 + Missense_Mutation SNP G G A TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 1 113059026 113059026 G A SNP WNT2B ENST00000369684 human ensembl 69_37n +1 known missense c.668 p.R223H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 61 0 0.00 76 14 15.56 - - - YPEL1 0 genome.wustl.edu 37 22 22064966 22064966 + Missense_Mutation SNP C C T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 22 22064966 22064966 C T SNP YPEL1 ENST00000339468 human ensembl 69_37n -1 known missense c.68 p.C23Y 1.000 pfam_Yippee pfam_Yippee - no_errors YPEL1 HGNC ENSG00000100027 300 0 0.00 387 53 11.75 - - - ZNF354C 0 genome.wustl.edu 37 5 178505799 178505799 + Missense_Mutation SNP T T G TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 5 178505799 178505799 T G SNP ZNF354C ENST00000315475 human ensembl 69_37n +1 known missense c.366 p.I122M 0.000 NULL 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 ZNF354C HGNC ENSG00000177932 62 0 0.00 54 12 18.18 - - - ZNF684 0 genome.wustl.edu 37 1 41012838 41012838 + Missense_Mutation SNP G G T TCGA-E9-A1NE-01A-21D-A14K-09 TCGA-E9-A1NE-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dbd34322-ac40-41f0-acc7-7bfd06afdf67 992642bc-6b17-456e-acf5-e2ec2a1f2a08 1 41012838 41012838 G T SNP ZNF684 ENST00000372699 human ensembl 69_37n +1 known missense c.843 p.R281S 0.000 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 ZNF684 HGNC ENSG00000117010 51 0 0.00 66 9 12.00 - - -