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 ZNF676 0 genome.wustl.edu 37 19 22363460 22363460 + Silent SNP A A G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 19 22363460 22363460 A G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.1059 p.T353 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 rs78757874 - 49 0 0.00 37 5 11.90 13 0 0.00 25 5 16.67 GREB1 0 genome.wustl.edu 37 2 11761063 11761063 + Silent SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 2 11761063 11761063 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.4077 p.L1359 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 39 0 0.00 18 8 30.77 102 0 0.00 34 32 48.48 ABCD1 0 genome.wustl.edu 37 X 152994946 152994946 + Missense_Mutation SNP A A T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 X 152994946 152994946 A T SNP ABCD1 ENST00000370129 human ensembl 74_37 +1 putative missense c.605 p.Q202L 0.000 NULL pfam_ABC_Peroxi_TM - no_errors ABCD1 HGNC ENSG00000101986 tier1 - - 25 0 0.00 20 9 31.03 17 0 0.00 10 2 16.67 AKR1C3 0 genome.wustl.edu 37 10 5147847 5147847 + Missense_Mutation SNP C C G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 10 5147847 5147847 C G SNP AKR1C3 ENST00000380554 human ensembl 74_37 +1 known missense c.907 p.L303V 0.035 superfamily_DP_OxRdtase_dom pfam_DP_OxRdtase_dom,superfamily_DP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C3 HGNC ENSG00000196139 tier1 - - 59 0 0.00 42 23 35.38 70 0 0.00 84 39 31.71 SPATA20 0 genome.wustl.edu 37 17 48628217 48628217 + Nonsense_Mutation SNP C C G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 17 48628217 48628217 C G SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known nonsense c.1322 p.S441* 0.854 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 tier1 - - 43 0 0.00 23 25 52.08 37 0 0.00 19 8 29.63 KBTBD4 0 genome.wustl.edu 37 11 47594902 47594902 + Silent SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 11 47594902 47594902 G A SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known silent c.1185 p.I395 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 tier1 - - 40 0 0.00 9 21 70.00 142 0 0.00 16 48 75.00 TRIP10 0 genome.wustl.edu 37 19 6744604 6744604 + Missense_Mutation SNP G G T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 19 6744604 6744604 G T SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.682 p.G228C 1.000 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 tier1 - - 44 0 0.00 33 18 35.29 68 0 0.00 34 24 41.38 SDF2 0 genome.wustl.edu 37 17 26976212 26976212 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 17 26976212 26976212 C T SNP SDF2 ENST00000247020 human ensembl 74_37 -1 known missense c.431 p.R144K 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors SDF2 HGNC ENSG00000132581 tier1 - - 37 0 0.00 18 17 48.57 111 0 0.00 56 50 47.17 SORBS3 0 genome.wustl.edu 37 8 22424623 22424623 + Missense_Mutation SNP G G T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 8 22424623 22424623 G T SNP SORBS3 ENST00000240123 human ensembl 74_37 +1 known missense c.1240 p.D414Y 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS3 HGNC ENSG00000120896 tier1 - - 25 0 0.00 13 20 60.61 50 0 0.00 28 33 54.10 SLC41A3 0 genome.wustl.edu 37 3 125731511 125731511 + Missense_Mutation SNP G G T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 3 125731511 125731511 G T SNP SLC41A3 ENST00000315891 human ensembl 74_37 -1 known missense c.1052 p.P351H 0.994 pfam_SLC41_membr_dom pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 tier1 - - 44 0 0.00 31 16 34.04 117 0 0.00 84 53 38.69 TXNDC16 0 genome.wustl.edu 37 14 52985905 52985905 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 14 52985905 52985905 C T SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.499 p.A167T 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 tier1 - - 28 0 0.00 14 18 56.25 68 0 0.00 71 35 33.02 ZNF718 0 genome.wustl.edu 37 4 155179 155179 + R SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 4 155179 155179 G A SNP ZNF718 ENST00000400172 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors ZNF718 HGNC ENSG00000250312 tier1 - - 20 0 0.00 20 10 33.33 51 0 0.00 24 28 53.85 HUWE1 0 genome.wustl.edu 37 X 53619440 53619440 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 X 53619440 53619440 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.3890 p.G1297E 1.000 superfamily_UBA-like pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 61 0 0.00 29 27 48.21 99 0 0.00 60 51 45.95 EPB41L3 0 genome.wustl.edu 37 18 5419919 5419919 + Nonsense_Mutation SNP C C A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 18 5419919 5419919 C A SNP EPB41L3 ENST00000544123 human ensembl 74_37 -1 known nonsense c.1351 p.E451* 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 46 0 0.00 33 36 52.17 75 0 0.00 34 34 50.00 CNTP5 0 genome.wustl.edu 37 2 124783076 124783076 + R SNP C C A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 2 124783076 124783076 C A SNP CNTP5 ENST00000423939 human ensembl 74_37 +1 putative rna NULL NULL 0.051 - - - no_errors CNTP5 HGNC ENSG00000155052 tier1 - - 11 0 0.00 5 4 44.44 35 0 0.00 13 9 40.91 SEMA6A 0 genome.wustl.edu 37 5 115838004 115838004 + Silent SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 5 115838004 115838004 C T SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known silent c.120 p.V40 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 11 0 0.00 9 15 62.50 100 0 0.00 50 42 45.65 SLC10A3 0 genome.wustl.edu 37 X 153717082 153717082 + Silent SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 X 153717082 153717082 C T SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known silent c.198 p.L66 1.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 tier1 - - 80 0 0.00 52 41 44.09 103 0 0.00 42 26 38.24 LYN 0 genome.wustl.edu 37 8 56912075 56912075 + Missense_Mutation SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 8 56912075 56912075 G A SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.1303 p.E435K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 tier1 - - 30 0 0.00 2 15 88.24 129 0 0.00 14 58 80.56 CDH12 0 genome.wustl.edu 37 5 21854831 21854831 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 5 21854831 21854831 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.595 p.V199I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 45 0 0.00 30 13 30.23 166 0 0.00 104 40 27.78 DH2 0 genome.wustl.edu 37 17 7623038 7623038 + Splice_Site SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 17 7623038 7623038 G A SNP DH2 ENST00000572933 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.885 - - - no_errors DH2 HGNC ENSG00000183914 tier1 - - 34 0 0.00 42 16 27.59 101 0 0.00 87 38 30.16 DPP6 0 genome.wustl.edu 37 7 154684144 154684144 + Missense_Mutation SNP A A G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 7 154684144 154684144 A G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2552 p.D851G 0.999 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 38 0 0.00 18 20 52.63 109 0 0.00 49 46 48.42 DDB1 0 genome.wustl.edu 37 11 61089859 61089859 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 11 61089859 61089859 C T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.1031 p.G344D 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 tier1 - - 27 0 0.00 23 15 39.47 158 0 0.00 82 75 47.77 KY 0 genome.wustl.edu 37 3 134338098 134338098 + Missense_Mutation SNP A A G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 3 134338098 134338098 A G SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.602 p.I201T 0.066 pfam_Transglutaminase-like pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 tier1 rs199921236 - 52 0 0.00 31 12 27.91 88 0 0.00 49 57 53.77 MYO7B 0 genome.wustl.edu 37 2 128389232 128389232 + Missense_Mutation SNP T T A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 2 128389232 128389232 T A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.5078 p.L1693H 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 37 0 0.00 23 18 43.90 42 0 0.00 21 14 40.00 UBXN6 0 genome.wustl.edu 37 19 4445565 4445565 + Missense_Mutation SNP T T C TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 19 4445565 4445565 T C SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known missense c.1256 p.K419R 0.166 NULL pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 tier1 - - 42 0 0.00 15 11 42.31 42 0 0.00 32 27 45.76 EHD1 0 genome.wustl.edu 37 11 64622875 64622875 + Missense_Mutation SNP G G C TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 11 64622875 64622875 G C SNP EHD1 ENST00000320631 human ensembl 74_37 -1 known missense c.999 p.N333K 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD1 HGNC ENSG00000110047 tier1 - - 24 0 0.00 18 12 40.00 91 0 0.00 39 22 36.07 FAM50B 0 genome.wustl.edu 37 6 3850370 3850370 + Missense_Mutation SNP C C G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 6 3850370 3850370 C G SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.325 p.Q109E 0.167 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 tier1 - - 24 0 0.00 12 11 45.83 5 0 0.00 10 4 28.57 EFCAB5 0 genome.wustl.edu 37 17 28405430 28405430 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 17 28405430 28405430 C T SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.2935 p.R979W 0.567 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 tier1 - - 33 0 0.00 25 16 39.02 119 0 0.00 54 35 38.89 LEMD2 0 genome.wustl.edu 37 6 33744825 33744842 + Splice_Site DEL GGACCACGTCTGCAGGAG GGACCACGTCTGCAGGAG - TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 GGACCACGTCTGCAGGAG GGACCACGTCTGCAGGAG GGACCACGTCTGCAGGAG - GGACCACGTCTGCAGGAG GGACCACGTCTGCAGGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 6 33744825 33744842 GGACCACGTCTGCAGGAG - DEL LEMD2 ENST00000293760 human ensembl 74_37 -1 known splice_site_del c.1259-9_1259-1 e8-1 1.000:0.979:1.000:1.000:1.000:1.000:1.000:0.955:0.995:1.000:1.000:0.981:0.209:0.054:0.005:0.007:0.000:0.000 - - - no_errors LEMD2 HGNC ENSG00000161904 tier1 71 0 0.00 54 12 18.18 71 0 0.00 54 12 18.18 NOLC1 0 genome.wustl.edu 37 10 103920666 103920668 + In_Frame_Del DEL TTC TTC - TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 TTC TTC TTC - TTC TTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 10 103920666 103920668 TTC - DEL NOLC1 ENST00000405356 human ensembl 74_37 +1 known in_frame_del c.1587_1589 p.S532in_frame_del 0.238:0.344:0.376 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 tier1 20 0 0.00 11 3 21.43 98 0 0.00 24 16 40.00 BEND5 0 genome.wustl.edu 37 1 49208335 49208338 + Frame_Shift_Del DEL GGAG GGAG - TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 GGAG GGAG GGAG - GGAG GGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 1 49208335 49208338 GGAG - DEL BEND5 ENST00000371833 human ensembl 74_37 -1 known frame_shift_del c.854_851 p.A284fs 1.000:1.000:1.000:1.000 NULL pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 tier1 45 0 0.00 46 22 32.35 119 0 0.00 59 49 45.37 RB1 0 genome.wustl.edu 37 13 48923068 48923109 + Splice_Site DEL TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA - TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA - TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 13 48923068 48923109 TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known splice_site_del c.540-24_540-1 e6-1 0.748:0.656:0.094:0.076:0.000:0.005:0.215:0.266:0.281:0.276:0.319:0.335:0.547:0.689:0.953:0.968:0.985:0.987:0.993:0.993:0.992:0.996:1.000:1.000:0.997:0.988:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - no_errors RB1 HGNC ENSG00000139687 tier1 55 0 0.00 20 3 13.04 55 0 0.00 20 3 13.04 CCDC154 0 genome.wustl.edu 37 16 1487892 1487892 + Missense_Mutation SNP G G T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 16 1487892 1487892 G T SNP CCDC154 ENST00000389176 human ensembl 74_37 -1 known missense c.1243 p.L415M 0.990 NULL NULL - no_errors CCDC154 HGNC ENSG00000197599 tier1 - - 14 0 0.00 12 8 40.00 15 0 0.00 9 3 25.00 CPNE8 0 genome.wustl.edu 37 12 39047419 39047419 + R SNP T T A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 12 39047419 39047419 T A SNP CPNE8 ENST00000546603 human ensembl 74_37 -1 known rna NULL NULL 0.031 - - - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 20 0 0.00 12 4 25.00 9 0 0.00 6 2 25.00 ENSG00000269690 0 genome.wustl.edu 37 1 201592613 201592613 + Missense_Mutation SNP T T C TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 1 201592613 201592613 T C SNP ENSG00000269690 ENST00000593583 human ensembl 74_37 +1 known missense c.601 p.S201P 0.167 NULL NULL - no_errors AC096677.1 Clone_based_ensembl_gene ENSG00000269690 tier1 - - 46 0 0.00 6 16 72.73 31 0 0.00 2 20 90.91 EPS15L1 0 genome.wustl.edu 37 19 16536019 16536019 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 19 16536019 16536019 C T SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known missense c.667 p.V223I 1.000 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 tier1 - - 24 0 0.00 13 18 58.06 14 0 0.00 7 7 46.67 ZNF799 0 genome.wustl.edu 37 19 12502914 12502914 + Missense_Mutation SNP C C G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 19 12502914 12502914 C G SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.298 p.V100L 0.001 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 ZNF799 HGNC ENSG00000196466 tier1 - - 63 0 0.00 42 5 10.64 53 0 0.00 43 4 8.51 ZNF799 0 genome.wustl.edu 37 19 12502913 12502913 + Missense_Mutation SNP A A T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 19 12502913 12502913 A T SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.299 p.V100E 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 ZNF799 HGNC ENSG00000196466 tier1 - - 64 0 0.00 42 6 12.50 53 0 0.00 44 4 8.33 F8 0 genome.wustl.edu 37 X 154158400 154158400 + Missense_Mutation SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 X 154158400 154158400 G A SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.3665 p.T1222I 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 - - 55 0 0.00 63 8 11.27 42 0 0.00 67 4 5.63 MYH9 0 genome.wustl.edu 37 22 36696962 36696962 + Missense_Mutation SNP C C T TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 22 36696962 36696962 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.2773 p.E925K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 tier1 - - 33 0 0.00 56 21 27.27 28 1 3.45 29 17 36.96 ENSG00000161103 0 genome.wustl.edu 37 22 18846342 18846342 + R SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 22 18846342 18846342 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 30 0 0.00 6 3 33.33 23 0 0.00 3 1 25.00 NEAT1 0 genome.wustl.edu 37 11 65211735 65211758 + R DEL TGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTG - TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 TGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 11 65211735 65211758 TGTGTGTGTGTGTGTGTGTGTGTG - DEL NEAT1 ENST00000501122 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.008:0.012:0.015:0.018:0.020:0.023:0.024:0.026:0.027:0.027:0.028:0.028:0.027:0.027:0.026:0.024:0.023:0.020:0.018:0.015:0.012:0.008:0.008 - - - no_errors NEAT1 HGNC ENSG00000245532 tier1 10 0 0.00 7 1 12.50 10 0 0.00 7 1 12.50 ZNF408 0 genome.wustl.edu 37 11 46726962 46726962 + Missense_Mutation SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 11 46726962 46726962 G A SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.1712 p.R571H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 tier1 - - 33 0 0.00 3 14 82.35 5 0 0.00 1 1 50.00 CLEC4M 0 genome.wustl.edu 37 19 7830875 7830875 + Missense_Mutation SNP A A G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 19 7830875 7830875 A G SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known missense c.566 p.K189R 0.689 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 tier1 - - 97 0 0.00 62 30 32.61 0 0 0.00 0 0 0.00 CTAGE4 0 genome.wustl.edu 37 7 143882559 143882559 + Missense_Mutation SNP A A G TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 7 143882559 143882559 A G SNP CTAGE4 ENST00000486333 human ensembl 74_37 +1 known missense c.1963 p.R655G 0.062 NULL superfamily_tR-bd_arm - no_errors CTAGE4 HGNC ENSG00000225932 tier1 rs199840651 - 13 0 0.00 8 4 33.33 0 0 0.00 0 0 0.00 ENSG00000221544 0 genome.wustl.edu 37 6 105629045 105629082 + R DEL TGTGTGTGTGTGTGTGTATATATATGTATATATATATA TGTGTGTGTGTGTGTGTATATATATGTATATATATATA - TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 TGTGTGTGTGTGTGTGTATATATATGTATATATATATA TGTGTGTGTGTGTGTGTATATATATGTATATATATATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 6 105629045 105629082 TGTGTGTGTGTGTGTGTATATATATGTATATATATATA - DEL ENSG00000221544 ENST00000408617 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.000:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.002:0.002:0.004:0.005:0.007:0.007:0.007:0.007:0.007:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors AL359709.1 Clone_based_ensembl_gene ENSG00000221544 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LINC00200 0 genome.wustl.edu 37 10 1205784 1205784 + R SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 10 1205784 1205784 G A SNP LINC00200 ENST00000425630 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors LINC00200 HGNC ENSG00000229205 tier1 rs12762051 - 36 0 0.00 19 5 20.83 1 0 0.00 0 0 0.00 LINC00200 0 genome.wustl.edu 37 10 1205788 1205788 + R SNP C C A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 10 1205788 1205788 C A SNP LINC00200 ENST00000425630 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00200 HGNC ENSG00000229205 tier1 - - 39 0 0.00 19 4 17.39 1 0 0.00 0 0 0.00 RGPD3 0 genome.wustl.edu 37 2 107039543 107039543 + Missense_Mutation SNP G G A TCGA-PC-A5DO-01A-11D-A26G-09 TCGA-PC-A5DO-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e26e7a28-a459-4727-bd2e-4e7c9f211e38 4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7 2 107039543 107039543 G A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.4880 p.T1627M 0.497 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 70 0 0.00 34 25 42.37 0 0 0.00 0 0 0.00