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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ALDH1L2 160428 genome.wustl.edu 37 12 105433521 105433521 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 12 105433521 105433521 G C SNP ALDH1L2 ENST00000258494 human ensembl 70_37 -1 known missense c.2015 p.S672C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ANKRD24 170961 genome.wustl.edu 37 19 4222784 4222784 + Nonsense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 19 4222784 4222784 C T SNP ANKRD24 ENST00000318934 human ensembl 70_37 +1 known nonsense c.3289 p.Q1097* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ARHGEF4 50649 genome.wustl.edu 37 2 131673587 131673587 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 2 131673587 131673587 G C SNP ARHGEF4 ENST00000409359 human ensembl 70_37 +1 putative missense c.1078 p.E360Q 0.000 NULL NULL - no_errors ARHGEF4 HGNC ARHGEF5 7984 genome.wustl.edu 37 7 144059772 144059772 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 7 144059772 144059772 G A SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.10 p.E4K 0.995 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ARHGEF5 7984 genome.wustl.edu 37 7 144059775 144059775 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 7 144059775 144059775 G A SNP ARHGEF5 ENST00000056217 human ensembl 70_37 +1 known missense c.13 p.E5K 0.986 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF5 HGNC ARL14 80117 genome.wustl.edu 37 3 160395701 160395701 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 160395701 160395701 C G SNP ARL14 ENST00000320767 human ensembl 70_37 +1 known missense c.567 p.F189L 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL14 HGNC ATP2A1 487 genome.wustl.edu 37 16 28912104 28912104 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 16 28912104 28912104 G A SNP ATP2A1 ENST00000357084 human ensembl 70_37 +1 known missense c.1967 p.R656Q 0.999 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,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 BCAS2 10286 genome.wustl.edu 37 1 115118335 115118335 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 115118335 115118335 C G SNP BCAS2 ENST00000369541 human ensembl 70_37 -1 known missense c.295 p.D99H 1.000 pfam_BCAS2 pfam_BCAS2 - no_errors BCAS2 HGNC C11orf53 341032 genome.wustl.edu 37 11 111156759 111156759 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 111156759 111156759 G C SNP C11orf53 ENST00000280325 human ensembl 70_37 +1 known missense c.691 p.E231Q 1.000 NULL NULL - no_errors C11orf53 HGNC C11orf82 220042 genome.wustl.edu 37 11 82643346 82643346 + Silent SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 82643346 82643346 G C SNP C11orf82 ENST00000430323 human ensembl 70_37 +1 known silent c.966 p.L322 0.001 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like - no_errors C11orf82 HGNC C1orf115 79762 genome.wustl.edu 37 1 220863780 220863780 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 220863780 220863780 G C SNP C1orf115 ENST00000294889 human ensembl 70_37 +1 known missense c.36 p.E12D 0.000 NULL NULL - no_errors C1orf115 HGNC CD164L2 388611 genome.wustl.edu 37 1 27709014 27709014 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 27709014 27709014 C G SNP CD164L2 ENST00000374030 human ensembl 70_37 -1 known missense c.232 p.E78Q 0.985 pfam_CD164_MGC24 pfam_CD164_MGC24 - no_errors CD164L2 HGNC CERS2 29956 genome.wustl.edu 37 1 150940615 150940615 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 150940615 150940615 G A SNP CERS2 ENST00000271688 human ensembl 70_37 -1 known silent c.354 p.F118 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeodomain pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC COPB2 9276 genome.wustl.edu 37 3 139077085 139077085 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 139077085 139077085 G A SNP COPB2 ENST00000333188 human ensembl 70_37 -1 known missense c.2582 p.T861I 0.787 pirsf_Coatomer_b'su pirsf_Coatomer_b'su,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC CUBN 8029 genome.wustl.edu 37 10 16949583 16949583 + Missense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 10 16949583 16949583 C T SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.7629 p.M2543I 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC DHX30 22907 genome.wustl.edu 37 3 47882630 47882630 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 47882630 47882630 G C SNP DHX30 ENST00000445061 human ensembl 70_37 +1 known missense c.630 p.M210I 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC DSG3 1830 genome.wustl.edu 37 18 29038498 29038498 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 18 29038498 29038498 G C SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.307 p.D103H 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC EGR4 1961 genome.wustl.edu 37 2 73519561 73519561 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 2 73519561 73519561 G A SNP EGR4 ENST00000545030 human ensembl 70_37 -1 known missense c.794 p.S265L 0.958 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC EHBP1L1 254102 genome.wustl.edu 37 11 65351108 65351108 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 65351108 65351108 G C SNP EHBP1L1 ENST00000309295 human ensembl 70_37 +1 known missense c.2965 p.E989Q 0.065 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000176593 0 genome.wustl.edu 37 19 58514257 58514257 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 19 58514257 58514257 C G SNP ENSG00000176593 ENST00000550135 human ensembl 70_37 +1 putative missense c.779 p.A260G 0.003 NULL NULL - no_errors CTD-2368P22.1 Clone_based_vega_gene EPRS 2058 genome.wustl.edu 37 1 220142417 220142417 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 220142417 220142417 G C SNP EPRS ENST00000366923 human ensembl 70_37 -1 known missense c.4371 p.I1457M 1.000 pfam_Pro-tRNA_ligase_II_C,superfamily_Pro-tRNA_synth_II,smart_Pro-tRNA_ligase_II_C,tigrfam_Pro-tRNA-ligase_IIa_arc-type pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth_Ib,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_Ib_arc/euk - no_errors EPRS HGNC FAM120A 23196 genome.wustl.edu 37 9 96320970 96320970 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 9 96320970 96320970 G C SNP FAM120A ENST00000333936 human ensembl 70_37 +1 known missense c.2860 p.D954H 1.000 NULL NULL - no_errors FAM120A HGNC FAT4 79633 genome.wustl.edu 37 4 126369917 126369917 + Silent SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 4 126369917 126369917 C T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.7746 p.V2582 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC GNB5 10681 genome.wustl.edu 37 15 52427908 52427908 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 15 52427908 52427908 C G SNP GNB5 ENST00000261837 human ensembl 70_37 -1 known missense c.673 p.E225Q 1.000 superfamily_WD40_repeat_dom,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB5 HGNC GPR68 8111 genome.wustl.edu 37 14 91701059 91701059 + Silent SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 14 91701059 91701059 G C SNP GPR68 ENST00000238699 human ensembl 70_37 -1 known silent c.366 p.L122 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Psych_rcpt - no_errors GPR68 HGNC IKZF2 22807 genome.wustl.edu 37 2 213921756 213921757 + Frame_Shift_Ins INS - - T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 2 213921756 213921757 - T INS IKZF2 ENST00000434687 human ensembl 70_37 -1 known frame_shift_ins c.207_206 p.D69fs 0.080:0.808 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC KBTBD12 166348 genome.wustl.edu 37 3 127642964 127642964 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 127642964 127642964 G C SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known missense c.1060 p.E354Q 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC KIAA1586 57691 genome.wustl.edu 37 6 56917955 56917955 + Nonsense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 6 56917955 56917955 C T SNP KIAA1586 ENST00000370733 human ensembl 70_37 +1 known nonsense c.658 p.Q220* 0.991 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC LAMC1 3915 genome.wustl.edu 37 1 183104287 183104287 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 183104287 183104287 G A SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known silent c.4110 p.L1370 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC LMOD3 56203 genome.wustl.edu 37 3 69171504 69171504 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 69171504 69171504 C G SNP LMOD3 ENST00000420581 human ensembl 70_37 -1 known missense c.34 p.E12Q 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC LRRC45 201255 genome.wustl.edu 37 17 79988571 79988571 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 17 79988571 79988571 G C SNP LRRC45 ENST00000306688 human ensembl 70_37 +1 known missense c.1903 p.E635Q 0.989 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC MAP4K2 5871 genome.wustl.edu 37 11 64559459 64559459 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 64559459 64559459 C G SNP MAP4K2 ENST00000294066 human ensembl 70_37 -1 known missense c.2014 p.E672Q 0.993 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K2 HGNC NFE2L1 4779 genome.wustl.edu 37 17 46136124 46136124 + Silent SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 17 46136124 46136124 C T SNP NFE2L1 ENST00000362042 human ensembl 70_37 +1 known silent c.1440 p.S480 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC NKAP 79576 genome.wustl.edu 37 X 119068474 119068474 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 X 119068474 119068474 C G SNP NKAP ENST00000371410 human ensembl 70_37 -1 known missense c.720 p.K240N 1.000 NULL pfam_DUF926 - no_errors NKAP HGNC PRKCQ 5588 genome.wustl.edu 37 10 6525506 6525506 + Missense_Mutation SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 10 6525506 6525506 G C SNP PRKCQ ENST00000263125 human ensembl 70_37 -1 known missense c.1075 p.L359V 0.019 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC PROM1 8842 genome.wustl.edu 37 4 16002130 16002130 + Missense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 4 16002130 16002130 C T SNP PROM1 ENST00000447510 human ensembl 70_37 -1 known missense c.1567 p.E523K 0.015 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC RASSF1 11186 genome.wustl.edu 37 3 50369018 50369018 + Silent SNP G G C TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 50369018 50369018 G C SNP RASSF1 ENST00000357043 human ensembl 70_37 -1 known silent c.744 p.L248 0.898 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC RFPL1S 10740 genome.wustl.edu 37 22 29833943 29833943 + RNA DEL T T - TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 22 29833943 29833943 T - DEL RFPL1-AS1 ENST00000461286 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors RFPL1-AS1 HGNC RHBDL3 162494 genome.wustl.edu 37 17 30615838 30615838 + Missense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 17 30615838 30615838 C T SNP RHBDL3 ENST00000269051 human ensembl 70_37 +1 known missense c.322 p.R108C 1.000 pirsf_Peptidase_S54_rhomboid_met pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_HAND_2 - no_errors RHBDL3 HGNC RNF149 284996 genome.wustl.edu 37 2 101924597 101924597 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 2 101924597 101924597 G A SNP RNF149 ENST00000295317 human ensembl 70_37 -1 known missense c.454 p.H152Y 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC SFTPA2 729238 genome.wustl.edu 37 10 81319157 81319157 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 10 81319157 81319157 C G SNP SFTPA2 ENST00000372325 human ensembl 70_37 -1 known missense c.83 p.G28A 0.079 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA2 HGNC SLC5A4 6527 genome.wustl.edu 37 22 32625325 32625325 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 22 32625325 32625325 C G SNP SLC5A4 ENST00000266086 human ensembl 70_37 -1 known missense c.1136 p.R379P 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC SLC7A14 57709 genome.wustl.edu 37 3 170216629 170216629 + Missense_Mutation SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 170216629 170216629 C T SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.586 p.A196T 0.996 pfam_AA-permease_dom pfam_AA-permease_dom - no_errors SLC7A14 HGNC SPICE1 152185 genome.wustl.edu 37 3 113187200 113187200 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 3 113187200 113187200 G A SNP SPICE1 ENST00000295872 human ensembl 70_37 -1 known missense c.941 p.S314L 0.000 NULL NULL - no_errors SPICE1 HGNC SZT2 23334 genome.wustl.edu 37 1 43908244 43908244 + Silent SNP C C T TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 43908244 43908244 C T SNP SZT2 ENST00000562955 human ensembl 70_37 +1 known silent c.7935 p.L2645 0.950 NULL NULL - no_errors SZT2 HGNC TARBP1 6894 genome.wustl.edu 37 1 234613973 234613973 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 1 234613973 234613973 C G SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known missense c.877 p.E293Q 1.000 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC TGFBI 7045 genome.wustl.edu 37 5 135382658 135382658 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 5 135382658 135382658 C G SNP TGFBI ENST00000305126 human ensembl 70_37 +1 known missense c.578 p.S193C 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC TANGO6 79613 genome.wustl.edu 37 16 68894388 68894388 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 16 68894388 68894388 C G SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.696 p.F232L 1.000 NULL pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC TP53BP1 7158 genome.wustl.edu 37 15 43784623 43784623 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 15 43784623 43784623 G A SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known silent c.51 p.F17 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TUT1 64852 genome.wustl.edu 37 11 62344739 62344739 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 11 62344739 62344739 G A SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known silent c.1299 p.F433 1.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC UBA2 10054 genome.wustl.edu 37 19 34954993 34954993 + Missense_Mutation SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 19 34954993 34954993 G A SNP UBA2 ENST00000246548 human ensembl 70_37 +1 known missense c.1561 p.D521N 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC USP8 9101 genome.wustl.edu 37 15 50741664 50741664 + Missense_Mutation SNP C C G TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 15 50741664 50741664 C G SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.317 p.S106C 1.000 pfam_DUF1873 pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC ZFYVE1 53349 genome.wustl.edu 37 14 73444865 73444865 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 14 73444865 73444865 G A SNP ZFYVE1 ENST00000553891 human ensembl 70_37 -1 known silent c.1497 p.L499 0.292 superfamily_Growth_fac_rcpt pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ZNF622 90441 genome.wustl.edu 37 5 16465736 16465736 + Silent SNP G G A TCGA-HM-A4S6-01A-11D-A26G-09 TCGA-HM-A4S6-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 542f81e6-6083-44ac-96e3-546512629746 6e2cce33-ac0f-44f4-a406-2a00d1179507 5 16465736 16465736 G A SNP ZNF622 ENST00000308683 human ensembl 70_37 -1 known silent c.39 p.F13 0.941 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF622 HGNC