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 AANAT 0 genome.wustl.edu 37 17 74464756 74464756 + Silent SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 17 74464756 74464756 G T SNP AANAT ENST00000250615 human ensembl 69_37n +1 known silent c.63 p.V21 0.228 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors AANAT HGNC ENSG00000129673 35 0 0.00 32 4 11.11 - - - ADPGK 0 genome.wustl.edu 37 15 73044812 73044812 + Nonsense_Mutation SNP C C T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 15 73044812 73044812 C T SNP ADPGK ENST00000311669 human ensembl 69_37n -1 known nonsense c.1361 p.W454* 1.000 pfam_ADP_PFK/GK pfam_ADP_PFK/GK - no_errors ADPGK HGNC ENSG00000159322 54 0 0.00 33 4 10.81 - - - ALG1L 0 genome.wustl.edu 37 3 125649445 125649445 + Missense_Mutation SNP T T A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 3 125649445 125649445 T A SNP ALG1L ENST00000340333 human ensembl 69_37n -1 known missense c.303 p.E101D 0.999 NULL NULL - no_errors ALG1L HGNC ENSG00000189366 162 0 0.00 62 23 27.06 - - - APPL1 0 genome.wustl.edu 37 3 57303610 57303610 + Missense_Mutation SNP A A T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 3 57303610 57303610 A T SNP APPL1 ENST00000288266 human ensembl 69_37n +1 known missense c.2025 p.R675S 1.000 NULL pfam_PTyr_interaction_dom,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL1 HGNC ENSG00000157500 78 0 0.00 32 6 15.79 - - - ARPC1A 0 genome.wustl.edu 37 7 98942098 98942098 + Nonsense_Mutation SNP C C T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 7 98942098 98942098 C T SNP ARPC1A ENST00000262942 human ensembl 69_37n +1 known nonsense c.352 p.R118* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 37 0 0.00 22 5 18.52 - - - ATP2A1 0 genome.wustl.edu 37 16 28909621 28909621 + Missense_Mutation SNP C C T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 16 28909621 28909621 C T SNP ATP2A1 ENST00000357084 human ensembl 69_37n +1 known missense c.1613 p.T538M 1.000 superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Ca-transp 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,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,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 70 0 0.00 66 25 27.47 - - - BMPR1A 0 genome.wustl.edu 37 10 88635786 88635786 + Missense_Mutation SNP T T A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 10 88635786 88635786 T A SNP BMPR1A ENST00000224764 human ensembl 69_37n +1 known missense c.11 p.L4Q 0.204 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR1A HGNC ENSG00000107779 135 0 0.00 69 24 25.81 - - - C10orf71 0 genome.wustl.edu 37 10 50532913 50532913 + Missense_Mutation SNP C C T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 10 50532913 50532913 C T SNP C10orf71 ENST00000374144 human ensembl 69_37n +1 known missense c.2323 p.R775W 0.000 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 44 0 0.00 25 8 24.24 - - - C2orf82 0 genome.wustl.edu 37 2 233740391 233740391 + RNA SNP A A G TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 2 233740391 233740391 A G SNP C2orf82 ENST00000476690 human ensembl 69_37n +1 putative rna NULL NULL 0.000 - - - no_errors C2orf82 HGNC ENSG00000182600 9 0 0.00 9 5 35.71 - - - CDH1 0 genome.wustl.edu 37 16 68862095 68862095 + Nonsense_Mutation SNP T T A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 16 68862095 68862095 T A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.2183 p.L728* 0.983 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 164 0 0.00 64 24 27.27 - - - CDHR1 0 genome.wustl.edu 37 10 85974550 85974550 + RNA SNP C C A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 10 85974550 85974550 C A SNP CDHR1 ENST00000459673 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors CDHR1 HGNC ENSG00000148600 8 0 0.00 5 4 44.44 - - - CHD5 0 genome.wustl.edu 37 1 6191719 6191719 + Missense_Mutation SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 1 6191719 6191719 G T SNP CHD5 ENST00000462991 human ensembl 69_37n -1 known missense c.1381 p.P461T 0.611 pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_DUF1086,pfam_DUF1087,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CHD5 HGNC ENSG00000116254 66 0 0.00 35 4 10.26 - - - CIDECP 0 genome.wustl.edu 37 3 10059658 10059658 + RNA SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 3 10059658 10059658 G T SNP CIDECP ENST00000424471 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CIDECP HGNC ENSG00000186162 53 0 0.00 30 4 11.76 - - - CLDN4 0 genome.wustl.edu 37 7 73245798 73245798 + Silent SNP C C A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 7 73245798 73245798 C A SNP CLDN4 ENST00000340958 human ensembl 69_37n +1 known silent c.267 p.I89 0.998 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4 - no_errors CLDN4 HGNC ENSG00000189143 74 0 0.00 36 7 16.28 - - - COL6A1 0 genome.wustl.edu 37 21 47423622 47423622 + Missense_Mutation SNP C C T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 21 47423622 47423622 C T SNP COL6A1 ENST00000361866 human ensembl 69_37n +1 known missense c.2782 p.R928C 0.892 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 107 0 0.00 43 5 10.42 - - - CRYBB2P1 0 genome.wustl.edu 37 22 25853368 25853368 + RNA SNP T T C TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 22 25853368 25853368 T C SNP CRYBB2P1 ENST00000354451 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CRYBB2P1 HGNC ENSG00000100058 88 0 0.00 39 6 13.33 - - - CSRP2 0 genome.wustl.edu 37 12 77253422 77253422 + Splice_Site SNP T T C TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 12 77253422 77253422 T C SNP CSRP2 ENST00000311083 human ensembl 69_37n -1 known splice_site c.412-2 e4-2 0.998 - - - no_errors CSRP2 HGNC ENSG00000175183 66 0 0.00 35 8 18.60 - - - DCDC1 0 genome.wustl.edu 37 11 31263112 31263112 + RNA SNP A A G TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 11 31263112 31263112 A G SNP DCDC1 ENST00000534722 human ensembl 69_37n -1 known rna NULL NULL 0.998 - - - no_errors DCDC1 HGNC ENSG00000188682 37 0 0.00 33 4 10.81 - - - FAM208B 0 genome.wustl.edu 37 10 5754852 5754852 + RNA SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 10 5754852 5754852 G T SNP FAM208B ENST00000463468 human ensembl 69_37n +1 known rna NULL NULL 0.993 - - - no_errors FAM208B HGNC ENSG00000108021 42 0 0.00 42 7 14.00 - - - FAM65A 0 genome.wustl.edu 37 16 67579729 67579729 + Missense_Mutation SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 16 67579729 67579729 G A SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known missense c.3413 p.R1138Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 57 0 0.00 14 6 30.00 - - - GCDH 0 genome.wustl.edu 37 19 13010643 13010643 + RNA SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 19 13010643 13010643 G T SNP GCDH ENST00000588242 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors GCDH HGNC ENSG00000105607 38 0 0.00 16 3 15.79 - - - GJE1 0 genome.wustl.edu 37 6 142455130 142455130 + Silent SNP C C T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 6 142455130 142455130 C T SNP GJE1 ENST00000450456 human ensembl 69_37n +1 known silent c.183 p.N61 0.987 pfam_Connexin_N pfam_Connexin_CCC,pfam_Connexin_N - no_errors GJE1 HGNC ENSG00000203733 121 0 0.00 53 8 13.11 - - - GTPBP2 0 genome.wustl.edu 37 6 43593284 43593284 + Missense_Mutation SNP C C A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 6 43593284 43593284 C A SNP GTPBP2 ENST00000307126 human ensembl 69_37n -1 known missense c.521 p.R174L 1.000 pfam_ProtSyn_GTP-bd pfam_ProtSyn_GTP-bd,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 62 0 0.00 29 4 11.76 - - - HAL 0 genome.wustl.edu 37 12 96389632 96389632 + Missense_Mutation SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 12 96389632 96389632 G T SNP HAL ENST00000261208 human ensembl 69_37n -1 known missense c.57 p.D19E 0.003 NULL pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 55 0 0.00 23 4 14.81 - - - ITGA9 0 genome.wustl.edu 37 3 37544783 37544783 + Frame_Shift_Del DEL C C - TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 3 37544783 37544783 C - DEL ITGA9 ENST00000264741 human ensembl 69_37n +1 known frame_shift_del c.727 p.R243fs 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 35 0 0.00 11 2 15.38 - - - MAP2 0 genome.wustl.edu 37 2 210570443 210570443 + Missense_Mutation SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 2 210570443 210570443 G A SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.4724 p.R1575Q 1.000 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 49 0 0.00 40 8 16.67 - - - NCOA2 0 genome.wustl.edu 37 8 71087081 71087081 + Silent SNP A A C TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 8 71087081 71087081 A C SNP NCOA2 ENST00000452400 human ensembl 69_37n -1 known silent c.273 p.A91 0.992 superfamily_HLH_DNA-bd,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA2 HGNC ENSG00000140396 75 0 0.00 43 11 20.37 - - - NCOR1 0 genome.wustl.edu 37 17 16075275 16075275 + Missense_Mutation SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 17 16075275 16075275 G A SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.277 p.H93Y 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 89 0 0.00 33 4 10.81 - - - RASGRP3 0 genome.wustl.edu 37 2 33752360 33752360 + Missense_Mutation SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 2 33752360 33752360 G A SNP RASGRP3 ENST00000402538 human ensembl 69_37n +1 known missense c.964 p.E322K 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 61 0 0.00 33 4 10.81 - - - RCN3 0 genome.wustl.edu 37 19 50045943 50045943 + Silent SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 19 50045943 50045943 G T SNP RCN3 ENST00000270645 human ensembl 69_37n +1 known silent c.813 p.L271 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors RCN3 HGNC ENSG00000142552 60 0 0.00 32 7 17.95 - - - RNA5SP498 0 genome.wustl.edu 37 X 1419249 1419249 + RNA SNP A A G TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd X 1419249 1419249 A G SNP RNA5SP498 ENST00000411342 human ensembl 69_37n -1 known rna NULL NULL 0.236 - - - no_errors RNA5SP498 HGNC ENSG00000223274 29 0 0.00 29 4 12.12 - - - SELP 0 genome.wustl.edu 37 1 169578896 169578896 + Missense_Mutation SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 1 169578896 169578896 G A SNP SELP ENST00000446728 human ensembl 69_37n -1 known missense c.991 p.P331S 0.007 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SELP HGNC ENSG00000174175 67 0 0.00 33 4 10.81 - - - SEMA6A 0 genome.wustl.edu 37 5 115818155 115818156 + Frame_Shift_Ins INS - - G TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 5 115818155 115818156 - G INS SEMA6A ENST00000257414 human ensembl 69_37n -1 known frame_shift_ins c.1079_1078 p.R360fs 0.994:0.966 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC ENSG00000092421 26 0 0.00 16 3 15.79 - - - SLC24A4 0 genome.wustl.edu 37 14 92959216 92959216 + Missense_Mutation SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 14 92959216 92959216 G A SNP SLC24A4 ENST00000525557 human ensembl 69_37n +1 putative missense c.1358 p.R453Q 0.000 NULL pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SLC24A4 HGNC ENSG00000140090 53 0 0.00 33 5 13.16 - - - SLC28A2 0 genome.wustl.edu 37 15 45558340 45558340 + Missense_Mutation SNP G G C TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 15 45558340 45558340 G C SNP SLC28A2 ENST00000347644 human ensembl 69_37n +1 known missense c.923 p.G308A 1.000 pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 72 0 0.00 34 14 29.17 - - - SLC30A9 0 genome.wustl.edu 37 4 42051496 42051496 + Missense_Mutation SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 4 42051496 42051496 G T SNP SLC30A9 ENST00000264451 human ensembl 69_37n +1 known missense c.840 p.Q280H 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 51 0 0.00 33 4 10.81 - - - SORBS2 0 genome.wustl.edu 37 4 186528172 186528172 + RNA SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 4 186528172 186528172 G A SNP SORBS2 ENST00000498125 human ensembl 69_37n -1 known rna NULL NULL 0.026 - - - no_errors SORBS2 HGNC ENSG00000154556 37 0 0.00 25 4 13.79 - - - SPRY4 0 genome.wustl.edu 37 5 141694224 141694224 + Silent SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 5 141694224 141694224 G A SNP SPRY4 ENST00000344120 human ensembl 69_37n -1 known silent c.519 p.P173 0.003 NULL pfam_Sprouty - no_errors SPRY4 HGNC ENSG00000187678 53 0 0.00 27 5 15.62 - - - TARSL2 0 genome.wustl.edu 37 15 102241331 102241331 + Silent SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 15 102241331 102241331 G A SNP TARSL2 ENST00000335968 human ensembl 69_37n -1 known silent c.1278 p.P426 0.848 tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa - no_errors TARSL2 HGNC ENSG00000185418 45 0 0.00 27 4 12.90 - - - TMEM120B 0 genome.wustl.edu 37 12 122199620 122199620 + Missense_Mutation SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 12 122199620 122199620 G T SNP TMEM120B ENST00000342607 human ensembl 69_37n +1 known missense c.527 p.S176I 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 52 0 0.00 11 3 21.43 - - - TPCN2 0 genome.wustl.edu 37 11 68845965 68845965 + Missense_Mutation SNP G G A TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 11 68845965 68845965 G A SNP TPCN2 ENST00000294309 human ensembl 69_37n +1 known missense c.1246 p.E416K 0.411 NULL pfam_Ion_trans_dom - no_errors TPCN2 HGNC ENSG00000162341 106 0 0.00 45 14 23.73 - - - TRIM16L 0 genome.wustl.edu 37 17 18602476 18602476 + RNA SNP A A G TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 17 18602476 18602476 A G SNP TRIM16L ENST00000449697 human ensembl 69_37n +1 known rna NULL NULL 0.726 - - - no_errors TRIM16L HGNC ENSG00000108448 39 0 0.00 32 5 13.51 - - - TSPAN5 0 genome.wustl.edu 37 4 99399888 99399888 + Missense_Mutation SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 4 99399888 99399888 G T SNP TSPAN5 ENST00000305798 human ensembl 69_37n -1 known missense c.524 p.A175E 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC ENSG00000168785 56 0 0.00 33 5 13.16 - - - ZFHX2 0 genome.wustl.edu 37 14 23996935 23996935 + Missense_Mutation SNP C C T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 14 23996935 23996935 C T SNP ZFHX2 ENST00000419474 human ensembl 69_37n -1 known missense c.3013 p.V1005M 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 31 0 0.00 19 6 24.00 - - - ZNF676 0 genome.wustl.edu 37 19 22364026 22364026 + Missense_Mutation SNP T T C TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 19 22364026 22364026 T C SNP ZNF676 ENST00000397121 human ensembl 69_37n -1 known missense c.493 p.R165G 0.900 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 82 0 0.00 45 13 22.41 - - - ZSWIM3 0 genome.wustl.edu 37 20 44506742 44506742 + Missense_Mutation SNP G G T TCGA-A7-A426-01A-22D-A243-09 TCGA-A7-A426-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73635f25-2d34-4846-ae87-eae8daa6150b d22300e2-883a-46e2-9b64-7c19d28483bd 20 44506742 44506742 G T SNP ZSWIM3 ENST00000255152 human ensembl 69_37n +1 known missense c.1545 p.E515D 1.000 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 41 0 0.00 18 3 14.29 - - -