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 ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val C21orf33 0 genome.wustl.edu 37 21 45556016 45556016 + Missense_Mutation SNP T T C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 21 45556016 45556016 T C SNP C21orf33 ENST00000291577 human ensembl 74_37 +1 known missense c.269 p.I90T 1.000 pfam_ThiJ/PfpI pfam_ThiJ/PfpI - no_errors C21orf33 HGNC ENSG00000160221 tier1 - - 26 0 0.00 18 15 45.45 90 0 0.00 41 34 45.33 ZDHHC3 0 genome.wustl.edu 37 3 44968308 44968308 + Missense_Mutation SNP C C A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 3 44968308 44968308 C A SNP ZDHHC3 ENST00000296127 human ensembl 74_37 -1 known missense c.857 p.R286I 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC3 HGNC ENSG00000163812 tier1 - - 32 0 0.00 12 5 29.41 124 1 0.80 81 15 15.62 PTPRR 0 genome.wustl.edu 37 12 71095059 71095059 + Missense_Mutation SNP C C A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 12 71095059 71095059 C A SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known missense c.1052 p.G351V 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 tier1 - - 63 0 0.00 54 15 21.74 185 0 0.00 106 32 23.19 GABRA1 0 genome.wustl.edu 37 5 161309577 161309577 + Silent SNP A A G TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 5 161309577 161309577 A G SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known silent c.573 p.R191 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 51 0 0.00 23 33 58.93 175 0 0.00 42 76 64.41 EXD2 0 genome.wustl.edu 37 14 69697224 69697224 + Missense_Mutation SNP C C G TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 14 69697224 69697224 C G SNP EXD2 ENST00000312994 human ensembl 74_37 +1 known missense c.626 p.S209C 1.000 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD2 HGNC ENSG00000081177 tier1 - - 45 0 0.00 17 19 52.78 117 0 0.00 27 39 58.21 STRA6 0 genome.wustl.edu 37 15 74490172 74490172 + R SNP T T A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 15 74490172 74490172 T A SNP STRA6 ENST00000573456 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors STRA6 HGNC ENSG00000137868 tier1 - - 37 0 0.00 28 18 39.13 78 0 0.00 37 26 40.62 HCLS1 0 genome.wustl.edu 37 3 121350968 121350968 + Missense_Mutation SNP G G T TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 3 121350968 121350968 G T SNP HCLS1 ENST00000314583 human ensembl 74_37 -1 known missense c.1304 p.A435D 0.989 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors HCLS1 HGNC ENSG00000180353 tier1 - - 12 0 0.00 6 6 50.00 57 0 0.00 33 8 19.51 GK2 0 genome.wustl.edu 37 4 80328302 80328302 + Missense_Mutation SNP T T A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 4 80328302 80328302 T A SNP GK2 ENST00000358842 human ensembl 74_37 -1 known missense c.1053 p.E351D 0.743 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC ENSG00000196475 tier1 - - 57 0 0.00 35 27 43.55 123 0 0.00 48 60 55.56 SPTBN2 0 genome.wustl.edu 37 11 66482782 66482782 + Missense_Mutation SNP G G A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 11 66482782 66482782 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.394 p.H132Y 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 tier1 - - 85 0 0.00 59 20 25.32 145 0 0.00 51 12 19.05 TEP1 0 genome.wustl.edu 37 14 20876097 20876097 + Missense_Mutation SNP G G C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 14 20876097 20876097 G C SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.502 p.L168V 0.000 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_CHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 tier1 - - 59 0 0.00 35 14 28.57 159 0 0.00 81 22 21.36 SORCS1 0 genome.wustl.edu 37 10 108434899 108434899 + Missense_Mutation SNP T T A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 10 108434899 108434899 T A SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.1848 p.E616D 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 30 0 0.00 14 9 39.13 122 0 0.00 35 17 32.69 PTPRM 0 genome.wustl.edu 37 18 7955245 7955245 + Missense_Mutation SNP C C T TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 18 7955245 7955245 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.965 p.T322M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 16 0 0.00 5 11 68.75 92 1 1.08 11 44 80.00 TRPC3 0 genome.wustl.edu 37 4 122853578 122853578 + Missense_Mutation SNP C C T TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 4 122853578 122853578 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.835 p.D279N 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 25 0 0.00 23 14 37.84 70 0 0.00 27 28 50.91 FCHO1 0 genome.wustl.edu 37 19 17886885 17886885 + Missense_Mutation SNP C C A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 19 17886885 17886885 C A SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.1097 p.A366D 0.821 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 tier1 - - 43 0 0.00 26 20 43.48 53 0 0.00 15 23 60.53 DQX1 0 genome.wustl.edu 37 2 74751281 74751281 + Silent SNP C C A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 2 74751281 74751281 C A SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known silent c.585 p.P195 0.843 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 tier1 - - 49 0 0.00 49 20 28.99 153 0 0.00 95 31 24.60 WDR96 0 genome.wustl.edu 37 10 105903296 105903296 + Missense_Mutation SNP A A T TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 10 105903296 105903296 A T SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.4046 p.M1349K 1.000 NULL superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 tier1 - - 50 0 0.00 20 23 53.49 156 0 0.00 39 14 25.93 PTPN13 0 genome.wustl.edu 37 4 87685826 87685826 + Silent SNP C C A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 4 87685826 87685826 C A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.4098 p.I1366 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 34 0 0.00 34 12 26.09 151 0 0.00 142 18 11.25 FABP7 0 genome.wustl.edu 37 6 123100972 123100972 + Silent SNP G G C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 6 123100972 123100972 G C SNP FABP7 ENST00000356535 human ensembl 74_37 +1 known silent c.33 p.L11 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP7 HGNC ENSG00000164434 tier1 - - 30 0 0.00 20 6 23.08 93 0 0.00 55 16 22.54 XRCC1 0 genome.wustl.edu 37 19 44057586 44057586 + Missense_Mutation SNP G G C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 19 44057586 44057586 G C SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known missense c.568 p.L190V 1.000 NULL pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 tier1 - - 37 0 0.00 18 35 66.04 80 0 0.00 19 25 56.82 PTPRJ 0 genome.wustl.edu 37 11 48152268 48152268 + Missense_Mutation SNP G G A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 11 48152268 48152268 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1615 p.V539I 1.000 superfamily_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-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 - - 27 0 0.00 16 11 40.74 173 0 0.00 67 19 22.09 ZFR 0 genome.wustl.edu 37 5 32390512 32390512 + Missense_Mutation SNP T T C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 5 32390512 32390512 T C SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.2011 p.M671V 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 tier1 - - 22 0 0.00 13 8 38.10 130 0 0.00 53 15 22.06 CHR4 0 genome.wustl.edu 37 20 61981730 61981730 + Missense_Mutation SNP G G A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 20 61981730 61981730 G A SNP CHR4 ENST00000370263 human ensembl 74_37 -1 known missense c.1033 p.R345C 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR4 HGNC ENSG00000101204 tier1 rs142260793 - 31 0 0.00 37 23 38.33 33 0 0.00 18 10 35.71 PDXDC2P 0 genome.wustl.edu 37 16 70057280 70057280 + Splice_Site DEL A A - TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 16 70057280 70057280 A - DEL PDXDC2P ENST00000325845 human ensembl 74_37 -1 known splice_site_del c.NULL NULL 1.000 - - - no_errors PDXDC2P HGNC ENSG00000196696 tier1 19 0 0.00 5 9 64.29 48 0 0.00 11 7 38.89 RN7SL809P 0 genome.wustl.edu 37 12 57064237 57064237 + R DEL G G - TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 12 57064237 57064237 G - DEL RN7SL809P ENST00000482040 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RN7SL809P HGNC ENSG00000241217 tier1 9 0 0.00 10 5 33.33 48 0 0.00 31 18 36.73 KSR2 0 genome.wustl.edu 37 12 118199050 118199050 + Missense_Mutation SNP G G A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 12 118199050 118199050 G A SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.752 p.S251L 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 23 0 0.00 10 15 60.00 31 0 0.00 7 7 50.00 LINC00957 0 genome.wustl.edu 37 7 44079576 44079576 + R SNP G G T TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 7 44079576 44079576 G T SNP LINC00957 ENST00000416824 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors LINC00957 HGNC ENSG00000235314 tier1 - - 11 0 0.00 9 7 43.75 35 0 0.00 9 7 43.75 MDGA1 0 genome.wustl.edu 37 6 37612423 37612423 + Missense_Mutation SNP T T C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 6 37612423 37612423 T C SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.2263 p.N755D 1.000 superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 47 0 0.00 5 21 80.77 94 0 0.00 7 33 82.50 OR1D2 0 genome.wustl.edu 37 17 2995908 2995908 + Missense_Mutation SNP C C A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 17 2995908 2995908 C A SNP OR1D2 ENST00000331459 human ensembl 74_37 -1 known missense c.383 p.C128F 0.865 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 tier1 - - 84 0 0.00 14 40 74.07 62 0 0.00 8 17 68.00 OTOP1 0 genome.wustl.edu 37 4 4199618 4199618 + Missense_Mutation SNP C C T TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 4 4199618 4199618 C T SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known missense c.943 p.A315T 0.965 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 tier1 - - 61 0 0.00 38 28 42.42 20 0 0.00 5 12 70.59 TNXB 0 genome.wustl.edu 37 6 32041701 32041701 + Silent SNP G G T TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 6 32041701 32041701 G T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.4404 p.A1468 0.286 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 27 0 0.00 1 10 90.91 52 0 0.00 6 13 68.42 GOLGA8O 0 genome.wustl.edu 37 15 32738673 32738673 + Splice_Site SNP A A C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 15 32738673 32738673 A C SNP GOLGA8O ENST00000509311 human ensembl 74_37 -1 novel splice_site c.1368+2 e15+2 1.000 - - - no_errors GOLGA8O HGNC ENSG00000206127 tier1 - - 293 1 0.34 313 66 17.41 11 0 0.00 6 0 0.00 LINC00969 0 genome.wustl.edu 37 3 195390553 195390553 + R SNP A A G TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 3 195390553 195390553 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 tier1 rs201494538 - 30 0 0.00 7 2 22.22 16 0 0.00 5 0 0.00 PRKAA2 0 genome.wustl.edu 37 1 57111096 57111096 + Missense_Mutation SNP G G C TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 1 57111096 57111096 G C SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.36 p.K12N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 tier1 - - 33 0 0.00 25 6 19.35 28 0 0.00 4 1 20.00 MUC4 0 genome.wustl.edu 37 3 195507032 195507032 + Missense_Mutation SNP T T A TCGA-PC-A5DL-01A-11D-A26G-09 TCGA-PC-A5DL-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 59863adf-efee-4f78-884f-9947c95acec7 ff5644a0-f09f-46ba-b790-9054b5d61ca3 3 195507032 195507032 T A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.11419 p.T3807S 0.318 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 143 0 0.00 81 9 10.00 2 0 0.00 3 0 0.00