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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AAK1 0 genome.wustl.edu 37 2 69732760 69732760 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 69732760 69732760 G T SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.2210 p.P737Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AAK1 HGNC ENSG00000115977 tier1 - - 75 0 0.00 39 10 20.41 ACTL6A 0 genome.wustl.edu 37 3 179305771 179305771 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 179305771 179305771 G A SNP ACTL6A ENST00000429709 human ensembl 74_37 +1 known silent c.1263 p.K421 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6A HGNC ENSG00000136518 tier1 - - 39 0 0.00 16 14 46.67 ADAM6 0 genome.wustl.edu 37 14 106436793 106436793 + RNA SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 14 106436793 106436793 C T SNP ADAM6 ENST00000452053 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM6 HGNC ENSG00000233988 tier1 - - 20 0 0.00 7 5 41.67 ADGB 0 genome.wustl.edu 37 6 147042619 147042619 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 147042619 147042619 G T SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.2073 p.L691F 1.000 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 66 0 0.00 31 21 40.38 AFF2 0 genome.wustl.edu 37 X 147891443 147891443 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 147891443 147891443 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1085 p.R362Q 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 63 0 0.00 10 47 82.46 AGRN 0 genome.wustl.edu 37 1 981861 981861 + Frame_Shift_Del DEL C C - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 981861 981861 C - DEL AGRN ENST00000379370 human ensembl 74_37 +1 known frame_shift_del c.2996 p.G1002fs 0.000 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 tier1 68 0 0.00 27 2 6.90 AHDC1 0 genome.wustl.edu 37 1 27877292 27877292 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 27877292 27877292 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.1335 p.P445 0.819 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 tier1 - - 12 0 0.00 7 4 36.36 AK2 0 genome.wustl.edu 37 1 33476313 33476313 + RNA SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 33476313 33476313 C T SNP AK2 ENST00000491241 human ensembl 74_37 -1 known rna NULL NULL 0.095 - - - no_errors AK2 HGNC ENSG00000004455 tier1 - - 112 0 0.00 54 13 19.40 AKR1A1 0 genome.wustl.edu 37 1 46034257 46034257 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 46034257 46034257 G A SNP AKR1A1 ENST00000351829 human ensembl 74_37 +1 known missense c.653 p.R218H 0.999 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1A1 HGNC ENSG00000117448 69 0 0.00 36 2 5.13 ARHGAP32 0 genome.wustl.edu 37 11 128839636 128839636 + Missense_Mutation SNP C C G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 128839636 128839636 C G SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.5430 p.K1810N 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 68 0 0.00 23 24 51.06 ARHGAP32 0 genome.wustl.edu 37 11 128843257 128843257 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 128843257 128843257 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.3102 p.P1034 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 75 0 0.00 41 19 31.67 ARHGAP32 0 genome.wustl.edu 37 11 128910853 128910853 + Nonsense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 128910853 128910853 G A SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known nonsense c.973 p.Q325* 1.000 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 tier1 - - 58 0 0.00 34 11 24.44 ARHGAP39 0 genome.wustl.edu 37 8 145773258 145773258 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 8 145773258 145773258 C T SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.1212 p.A404 0.029 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 10 0 0.00 12 5 29.41 ARHGEF10L 0 genome.wustl.edu 37 1 17975067 17975067 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 17975067 17975067 G A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.2291 p.G764D 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 tier1 - - 54 0 0.00 27 4 12.90 ARHGEF19 0 genome.wustl.edu 37 1 16534232 16534232 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 16534232 16534232 G A SNP ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known silent c.735 p.S245 0.004 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 ARHGEF19 HGNC ENSG00000142632 tier1 - - 74 0 0.00 35 4 10.26 ARID4B 0 genome.wustl.edu 37 1 235424033 235424033 + Missense_Mutation SNP G G C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 235424033 235424033 G C SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.41 p.T14S 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 tier1 - - 86 0 0.00 37 19 33.93 ARPP21 0 genome.wustl.edu 37 3 35770848 35770848 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 35770848 35770848 C T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.1177 p.P393S 0.943 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 43 0 0.00 33 2 5.71 ASPRV1 0 genome.wustl.edu 37 2 70187813 70187813 + Silent SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 70187813 70187813 T C SNP ASPRV1 ENST00000320256 human ensembl 74_37 -1 known silent c.1008 p.E336 0.000 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 tier1 - - 73 0 0.00 74 4 5.13 ATG4B 0 genome.wustl.edu 37 2 242590455 242590455 + Missense_Mutation SNP C C G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 242590455 242590455 C G SNP ATG4B ENST00000404914 human ensembl 74_37 +1 known missense c.41 p.A14G 0.997 NULL pfam_Peptidase_C54 - no_errors ATG4B HGNC ENSG00000168397 tier1 - - 54 0 0.00 12 13 52.00 ATP10D 0 genome.wustl.edu 37 4 47525174 47525174 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 47525174 47525174 G T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.631 p.G211C 0.998 pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 117 0 0.00 76 4 5.00 BHLHE22 0 genome.wustl.edu 37 8 65493930 65493930 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 8 65493930 65493930 G A SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.583 p.V195I 0.103 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 10 0 0.00 10 6 37.50 BMP8B 0 genome.wustl.edu 37 1 40230448 40230448 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 40230448 40230448 G A SNP BMP8B ENST00000372827 human ensembl 74_37 -1 known missense c.715 p.R239W 0.008 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8B HGNC ENSG00000116985 tier1 - - 199 0 0.00 82 10 10.87 BTBD7 0 genome.wustl.edu 37 14 93754909 93754909 + Frame_Shift_Del DEL T T - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 14 93754909 93754909 T - DEL BTBD7 ENST00000555525 human ensembl 74_37 -1 putative frame_shift_del c.1330 p.R444fs 0.538 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 tier1 15 0 0.00 11 2 15.38 C10orf11 0 genome.wustl.edu 37 10 77542758 77542758 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 10 77542758 77542758 G T SNP C10orf11 ENST00000372499 human ensembl 74_37 +1 known missense c.25 p.G9C 0.998 NULL NULL - no_errors C10orf11 HGNC ENSG00000148655 25 0 0.00 17 2 10.53 C3orf62 0 genome.wustl.edu 37 3 49308821 49308821 + Missense_Mutation SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 49308821 49308821 T C SNP C3orf62 ENST00000343010 human ensembl 74_37 -1 known missense c.596 p.E199G 0.831 NULL NULL - no_errors C3orf62 HGNC ENSG00000188315 tier1 - - 56 0 0.00 18 26 59.09 C9orf169 0 genome.wustl.edu 37 9 140120094 140120094 + Silent SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 140120094 140120094 C A SNP C9orf169 ENST00000359069 human ensembl 74_37 +1 known silent c.21 p.V7 0.125 pfam_UPF0574 pfam_UPF0574 - no_errors C9orf169 HGNC ENSG00000197191 tier1 - - 42 0 0.00 44 24 35.29 CD248 0 genome.wustl.edu 37 11 66082734 66082734 + Nonsense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 66082734 66082734 G A SNP CD248 ENST00000311330 human ensembl 74_37 -1 known nonsense c.1765 p.Q589* 0.738 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 tier1 - - 46 0 0.00 19 6 24.00 CD38 0 genome.wustl.edu 37 4 15818189 15818189 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 15818189 15818189 C A SNP CD38 ENST00000226279 human ensembl 74_37 +1 known missense c.289 p.H97N 0.336 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 tier1 - - 84 0 0.00 44 20 30.77 CDON 0 genome.wustl.edu 37 11 125889553 125889553 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 125889553 125889553 G T SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.457 p.R153S 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 78 0 0.00 47 3 5.88 CEBPA 0 genome.wustl.edu 37 19 33792456 33792456 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 33792456 33792456 G A SNP CEBPA ENST00000498907 human ensembl 74_37 -1 known missense c.865 p.R289C 1.000 pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPA HGNC ENSG00000245848 87 0 0.00 54 3 5.26 CEL 0 genome.wustl.edu 37 9 135946427 135946427 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 135946427 135946427 C T SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1547 p.T516M 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 - - 64 0 0.00 44 9 16.98 CEP57L1 0 genome.wustl.edu 37 6 109468002 109468002 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 109468002 109468002 C T SNP CEP57L1 ENST00000359793 human ensembl 74_37 +1 known missense c.202 p.R68C 0.998 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 tier1 - - 71 0 0.00 44 10 18.52 CLDND1 0 genome.wustl.edu 37 3 98240278 98240278 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 98240278 98240278 C T SNP CLDND1 ENST00000437922 human ensembl 74_37 -1 known silent c.60 p.L20 1.000 NULL pfam_PMP22/EMP/MP20/Claudin - no_errors CLDND1 HGNC ENSG00000080822 15 0 0.00 13 5 27.78 CRLF2 0 genome.wustl.edu 37 X 1327703 1327703 + Missense_Mutation SNP A A G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 1327703 1327703 A G SNP CRLF2 ENST00000381567 human ensembl 74_37 -1 known missense c.178 p.Y60H 0.030 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF2 HGNC ENSG00000205755 tier1 - - 255 0 0.00 223 32 12.55 CRLF2 0 genome.wustl.edu 37 X 1327704 1327704 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 1327704 1327704 G T SNP CRLF2 ENST00000381567 human ensembl 74_37 -1 known missense c.177 p.H59Q 0.029 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF2 HGNC ENSG00000205755 tier1 - - 253 0 0.00 224 32 12.50 CTNNA2 0 genome.wustl.edu 37 2 80782891 80782891 + Silent SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 80782891 80782891 G T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1716 p.R572 0.998 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 57 0 0.00 36 2 5.13 CTNNA3 0 genome.wustl.edu 37 10 68280417 68280417 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 10 68280417 68280417 C T SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.1489 p.V497I 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 tier1 - - 65 0 0.00 39 24 38.10 CUX1 0 genome.wustl.edu 37 7 101916646 101916646 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 101916646 101916646 C T SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.1265 p.A422V 0.963 pfam_CASP_C pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 tier1 - - 71 0 0.00 62 14 18.42 CXorf31 0 genome.wustl.edu 37 X 46753976 46753976 + Silent SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 46753976 46753976 G T SNP CXorf31 ENST00000377879 human ensembl 74_37 -1 known silent c.33 p.T11 0.000 NULL NULL - no_errors CXorf31 HGNC ENSG00000204904 tier1 - - 49 0 0.00 26 4 13.33 CYFIP1 0 genome.wustl.edu 37 15 22940818 22940818 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 15 22940818 22940818 G A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known silent c.1083 p.S361 0.006 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 36 0 0.00 19 2 9.52 CYP4F2 0 genome.wustl.edu 37 19 15990223 15990223 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 15990223 15990223 G T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1330 p.R444S 0.994 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 - - 87 0 0.00 49 59 54.63 DCAF12L2 0 genome.wustl.edu 37 X 125298846 125298846 + Silent SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 125298846 125298846 C A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.1062 p.R354 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 tier1 - - 37 0 0.00 3 14 82.35 DCBLD1 0 genome.wustl.edu 37 6 117859866 117859866 + Nonsense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 117859866 117859866 C T SNP DCBLD1 ENST00000338728 human ensembl 74_37 +1 known nonsense c.844 p.Q282* 0.001 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 tier1 - - 58 0 0.00 23 16 41.03 DERL3 0 genome.wustl.edu 37 22 24180922 24180922 + Silent SNP C C G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 22 24180922 24180922 C G SNP DERL3 ENST00000318109 human ensembl 74_37 -1 known silent c.135 p.P45 0.994 pfam_DER1 pfam_DER1 - no_errors DERL3 HGNC ENSG00000099958 tier1 - - 124 0 0.00 46 9 16.36 DGKH 0 genome.wustl.edu 37 13 42784739 42784739 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 13 42784739 42784739 C T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.2852 p.A951V 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 tier1 - - 72 0 0.00 56 4 6.67 DLX2 0 genome.wustl.edu 37 2 172967148 172967148 + Missense_Mutation SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 172967148 172967148 T C SNP DLX2 ENST00000234198 human ensembl 74_37 -1 known missense c.119 p.N40S 0.992 NULL pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 60 0 0.00 29 4 12.12 DMD 0 genome.wustl.edu 37 X 32862923 32862923 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 32862923 32862923 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.241 p.L81M 0.998 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 54 0 0.00 12 3 20.00 DNMT1 0 genome.wustl.edu 37 19 10257175 10257175 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 10257175 10257175 C T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.2746 p.A916T 0.894 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 93 0 0.00 52 3 5.45 DOCK11 0 genome.wustl.edu 37 X 117700054 117700054 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 117700054 117700054 G A SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.780 p.M260I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 tier1 - - 63 0 0.00 13 40 75.47 DPY19L2 0 genome.wustl.edu 37 12 64055262 64055263 + Splice_Site INS - - T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 12 64055262 64055263 - T INS DPY19L2 ENST00000324472 human ensembl 74_37 -1 known splice_site_ins c.451-2_451-1 e4-1 1.000:0.999 - - - no_errors DPY19L2 HGNC ENSG00000177990 tier1 84 0 0.00 58 29 33.33 DSTYK 0 genome.wustl.edu 37 1 205117394 205117394 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 205117394 205117394 C T SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known silent c.2541 p.K847 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 46 0 0.00 29 2 6.45 ECE2 0 genome.wustl.edu 37 3 183995996 183995996 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 183995996 183995996 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known silent c.999 p.N333 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 61 0 0.00 27 17 38.64 ENKD1 0 genome.wustl.edu 37 16 67697103 67697103 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 16 67697103 67697103 G A SNP ENKD1 ENST00000243878 human ensembl 74_37 -1 known silent c.1002 p.I334 0.999 NULL NULL - no_errors ENKD1 HGNC ENSG00000124074 tier1 - - 68 0 0.00 20 24 54.55 ENSG00000221395 0 genome.wustl.edu 37 16 82875766 82875766 + RNA SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 16 82875766 82875766 T C SNP ENSG00000221395 ENST00000408468 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC099506.1 Clone_based_ensembl_gene ENSG00000221395 tier1 - - 29 0 0.00 2 6 75.00 ENSG00000262456 0 genome.wustl.edu 37 17 2288155 2288155 + RNA SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 2288155 2288155 C T SNP ENSG00000262456 ENST00000571775 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-59D14.1 Clone_based_vega_gene ENSG00000262456 tier1 - - 25 0 0.00 27 18 40.00 ENSG00000271011 0 genome.wustl.edu 37 2 179442292 179442292 + RNA SNP T T A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 179442292 179442292 T A SNP ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.663 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 tier1 - - 57 0 0.00 50 4 7.41 ENSG00000272140 0 genome.wustl.edu 37 10 75463858 75463858 + RNA SNP A A C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 10 75463858 75463858 A C SNP ENSG00000272140 ENST00000415917 human ensembl 74_37 -1 known rna NULL NULL 0.174 - - - no_errors RP11-574K11.29 Clone_based_vega_gene ENSG00000272140 tier1 - - 110 0 0.00 44 17 27.87 ENTHD1 0 genome.wustl.edu 37 22 40283492 40283492 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 22 40283492 40283492 C A SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.261 p.K87N 0.887 pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 44 0 0.00 23 11 32.35 ETNK2 0 genome.wustl.edu 37 1 204101362 204101362 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 204101362 204101362 G T SNP ETNK2 ENST00000367202 human ensembl 74_37 -1 known missense c.1111 p.Q371K 1.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 tier1 - - 38 0 0.00 17 3 15.00 FAM120A 0 genome.wustl.edu 37 9 96294581 96294581 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 96294581 96294581 G T SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.1963 p.A655S 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 tier1 - - 78 0 0.00 71 4 5.33 FAM131C 0 genome.wustl.edu 37 1 16385063 16385064 + Frame_Shift_Ins INS - - G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 16385063 16385064 - G INS FAM131C ENST00000375662 human ensembl 74_37 -1 known frame_shift_ins c.712_711 p.S237fs 0.458:0.335 NULL superfamily_Chromodomain-like - no_errors FAM131C HGNC ENSG00000185519 tier1 66 0 0.00 27 8 22.86 FAM172A 0 genome.wustl.edu 37 5 93410402 93410402 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 5 93410402 93410402 G T SNP FAM172A ENST00000395965 human ensembl 74_37 -1 known missense c.55 p.Q19K 1.000 NULL pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 69 0 0.00 36 2 5.13 FAM175B 0 genome.wustl.edu 37 10 126517363 126517363 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 10 126517363 126517363 G T SNP FAM175B ENST00000298492 human ensembl 74_37 +1 known missense c.497 p.G166V 1.000 prints_FAM175 prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175 - no_errors FAM175B HGNC ENSG00000165660 tier1 - - 88 0 0.00 68 4 5.56 FAM181A 0 genome.wustl.edu 37 14 94394682 94394682 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 14 94394682 94394682 G A SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known silent c.237 p.A79 0.071 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 tier1 - - 65 0 0.00 26 13 33.33 FAM184B 0 genome.wustl.edu 37 4 17661603 17661603 + Missense_Mutation SNP T T G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 17661603 17661603 T G SNP FAM184B ENST00000265018 human ensembl 74_37 -1 known missense c.1802 p.Q601P 1.000 NULL NULL - no_errors FAM184B HGNC ENSG00000047662 tier1 - - 71 0 0.00 49 7 12.50 FAM84A 0 genome.wustl.edu 37 2 14789551 14789551 + RNA SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 14789551 14789551 C A SNP FAM84A ENST00000464947 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM84A HGNC ENSG00000162981 tier1 - - 96 0 0.00 36 24 40.00 FBXO31 0 genome.wustl.edu 37 16 87380786 87380786 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 16 87380786 87380786 G A SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known silent c.483 p.N161 0.998 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 tier1 - - 39 0 0.00 4 13 76.47 FCRL1 0 genome.wustl.edu 37 1 157773875 157773875 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 157773875 157773875 G T SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known missense c.79 p.H27N 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 86 0 0.00 41 4 8.89 FGF5 0 genome.wustl.edu 37 4 81196110 81196110 + Nonsense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 81196110 81196110 G T SNP FGF5 ENST00000312465 human ensembl 74_37 +1 known nonsense c.403 p.G135* 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF5 HGNC ENSG00000138675 tier1 - - 129 0 0.00 53 4 7.02 FLJ46361 0 genome.wustl.edu 37 10 124558447 124558447 + RNA SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 10 124558447 124558447 G T SNP FLJ46361 ENST00000605982 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 tier1 - - 103 0 0.00 47 13 21.67 FLNB 0 genome.wustl.edu 37 3 58092574 58092574 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 58092574 58092574 G T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.1915 p.A639S 0.923 superfamily_Ig_E-set,smart_Filamin pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 31 0 0.00 32 2 5.88 FRMD3 0 genome.wustl.edu 37 9 86153075 86153075 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 86153075 86153075 G A SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known silent c.72 p.S24 1.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 tier1 - - 145 0 0.00 60 41 40.59 FSIP2 0 genome.wustl.edu 37 2 186664503 186664503 + Nonsense_Mutation SNP C C G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 186664503 186664503 C G SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known nonsense c.10737 p.Y3579* 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 113 0 0.00 74 48 39.34 GAS1 0 genome.wustl.edu 37 9 89561664 89561664 + Nonsense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 89561664 89561664 C A SNP GAS1 ENST00000298743 human ensembl 74_37 -1 known nonsense c.31 p.E11* 0.997 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 47 0 0.00 26 8 23.53 GCH1 0 genome.wustl.edu 37 14 55312530 55312530 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 14 55312530 55312530 C T SNP GCH1 ENST00000395514 human ensembl 74_37 -1 known silent c.582 p.T194 0.997 pfam_GTP_CycHdrlase_I_dom,tigrfam_GTP_CycHdrlase_I pfam_GTP_CycHdrlase_I_dom,tigrfam_GTP_CycHdrlase_I - no_errors GCH1 HGNC ENSG00000131979 46 0 0.00 54 3 5.26 GNAZ 0 genome.wustl.edu 37 22 23465296 23465296 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 22 23465296 23465296 G A SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.746 p.R249H 0.998 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 tier1 - - 80 0 0.00 20 22 52.38 GPR31 0 genome.wustl.edu 37 6 167570380 167570380 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 167570380 167570380 G T SNP GPR31 ENST00000366834 human ensembl 74_37 -1 known missense c.940 p.P314T 0.006 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR31 HGNC ENSG00000120436 62 0 0.00 42 4 8.70 GPR55 0 genome.wustl.edu 37 2 231775309 231775309 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 231775309 231775309 G A SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known silent c.369 p.I123 0.964 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 tier1 - - 48 0 0.00 20 16 44.44 GREB1 0 genome.wustl.edu 37 2 11780510 11780510 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 11780510 11780510 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.5780 p.R1927H 0.996 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 31 0 0.00 23 8 25.81 GRIP2 0 genome.wustl.edu 37 3 14549126 14549126 + RNA SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 14549126 14549126 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 tier1 - - 64 0 0.00 29 19 39.58 GRM8 0 genome.wustl.edu 37 7 126173519 126173519 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 126173519 126173519 C T SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1917 p.M639I 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 41 0 0.00 30 5 14.29 GSDMC 0 genome.wustl.edu 37 8 130762320 130762320 + Missense_Mutation SNP T T G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 8 130762320 130762320 T G SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.1129 p.I377L 0.200 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 97 0 0.00 87 21 19.27 H2AFB1 0 genome.wustl.edu 37 X 154113573 154113573 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 154113573 154113573 C T SNP H2AFB1 ENST00000354461 human ensembl 74_37 +1 known silent c.249 p.I83 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFB1 HGNC ENSG00000198082 tier1 - - 182 0 0.00 82 62 43.06 HBG2 0 genome.wustl.edu 37 11 5275677 5275677 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 5275677 5275677 C T SNP HBG2 ENST00000336906 human ensembl 74_37 -1 known missense c.160 p.A54T 0.948 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG2 HGNC ENSG00000196565 tier1 - - 280 0 0.00 124 43 25.60 HGFAC 0 genome.wustl.edu 37 4 3443784 3443786 + In_Frame_Del DEL TCC TCC - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 3443784 3443786 TCC - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known in_frame_del c.56_58 p.L23in_frame_del 0.728:0.710:0.712 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 tier1 44 0 0.00 28 3 9.68 HIST2H2BF 0 genome.wustl.edu 37 1 149783548 149783548 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 149783548 149783548 C T SNP HIST2H2BF ENST00000427880 human ensembl 74_37 -1 known missense c.331 p.A111T 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC ENSG00000203814 tier1 - - 45 0 0.00 26 12 31.58 HIVEP2 0 genome.wustl.edu 37 6 143095613 143095613 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 143095613 143095613 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.263 p.R88H 0.993 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 71 0 0.00 53 14 20.90 HIVEP3 0 genome.wustl.edu 37 1 42048742 42048742 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 42048742 42048742 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1727 p.S576N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 69 0 0.00 33 2 5.71 HPS5 0 genome.wustl.edu 37 11 18303559 18303559 + Silent SNP A A G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 18303559 18303559 A G SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known silent c.3267 p.L1089 0.158 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 tier1 - - 70 0 0.00 30 4 11.76 HS3ST1 0 genome.wustl.edu 37 4 11400771 11400771 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 11400771 11400771 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.859 p.E287K 0.979 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 - - 76 0 0.00 40 5 11.11 HS3ST1 0 genome.wustl.edu 37 4 11400857 11400857 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 11400857 11400857 C A SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.773 p.R258L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 - - 62 0 0.00 50 4 7.41 HTT 0 genome.wustl.edu 37 4 3240679 3240679 + Frame_Shift_Del DEL G G - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 3240679 3240679 G - DEL HTT ENST00000355072 human ensembl 74_37 +1 known frame_shift_del c.9189 p.S3064fs 0.030 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 73 0 0.00 26 27 50.94 IKBKE 0 genome.wustl.edu 37 1 206652386 206652386 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 206652386 206652386 G A SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.1093 p.V365I 0.985 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IKBKE HGNC ENSG00000143466 tier1 - - 44 0 0.00 9 8 47.06 INSRR 0 genome.wustl.edu 37 1 156816460 156816460 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 156816460 156816460 C T SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.1661 p.R554H 0.997 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 tier1 - - 35 0 0.00 16 4 20.00 ITPKB 0 genome.wustl.edu 37 1 226923581 226923581 + Nonsense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 226923581 226923581 G A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known nonsense c.1579 p.Q527* 0.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 54 0 0.00 37 3 7.32 KCNH4 0 genome.wustl.edu 37 17 40331008 40331008 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 40331008 40331008 C A SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known missense c.113 p.R38L 0.068 superfamily_PAS,pfscan_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 tier1 - - 60 0 0.00 52 4 7.14 KCNJ12 0 genome.wustl.edu 37 17 21319388 21319388 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 21319388 21319388 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.734 p.P245L 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 rs140875968 - 126 0 0.00 99 12 10.81 KCNK15 0 genome.wustl.edu 37 20 43379101 43379101 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 20 43379101 43379101 C T SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known silent c.615 p.F205 0.998 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 46 0 0.00 48 3 5.88 KHSRP 0 genome.wustl.edu 37 19 6416853 6416853 + Frame_Shift_Del DEL G G - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 6416853 6416853 G - DEL KHSRP ENST00000398148 human ensembl 74_37 -1 known frame_shift_del c.1223 p.P408fs 0.998 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 tier1 127 0 0.00 38 2 5.00 KIAA0141 0 genome.wustl.edu 37 5 141309193 141309193 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 5 141309193 141309193 G A SNP KIAA0141 ENST00000194118 human ensembl 74_37 +1 known silent c.459 p.R153 0.034 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 47 0 0.00 40 4 9.09 KIAA2022 0 genome.wustl.edu 37 X 73961539 73961539 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 73961539 73961539 G T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.2853 p.D951E 0.967 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 48 0 0.00 24 3 11.11 KLF12 0 genome.wustl.edu 37 13 74420344 74420344 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 13 74420344 74420344 G A SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known missense c.290 p.S97L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 tier1 - - 125 0 0.00 54 45 45.45 KPNB1 0 genome.wustl.edu 37 17 45738512 45738512 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 45738512 45738512 G A SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.664 p.V222I 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 tier1 - - 81 0 0.00 34 21 38.18 KRTAP10-7 0 genome.wustl.edu 37 21 46020564 46020564 + Missense_Mutation SNP T T A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 21 46020564 46020564 T A SNP KRTAP10-7 ENST00000380102 human ensembl 74_37 +1 known missense c.43 p.Y15N 0.002 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 tier1 - - 184 0 0.00 32 64 66.67 LMTK3 0 genome.wustl.edu 37 19 49003083 49003083 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 49003083 49003083 G A SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known missense c.1330 p.R444W 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom 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 - no_errors LMTK3 HGNC ENSG00000142235 tier1 - - 75 0 0.00 36 4 10.00 LOC100128682 0 genome.wustl.edu 37 19 35899445 35899445 + RNA SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 35899445 35899445 C A SNP LOC100128682 ENST00000536898 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC002511.1 Clone_based_vega_gene ENSG00000205786 tier1 - - 59 0 0.00 25 13 34.21 LOC100131347 0 genome.wustl.edu 37 17 37263851 37263851 + RNA SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 37263851 37263851 G A SNP LOC100131347 ENST00000578423 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2206N4.4 Clone_based_vega_gene ENSG00000263818 tier1 - - 85 0 0.00 45 19 29.69 LOC101927806 0 genome.wustl.edu 37 1 17198381 17198381 + RNA SNP T T G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 17198381 17198381 T G SNP LOC101927806 ENST00000438002 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors U1 RFAM ENSG00000228549 tier1 rs199674141 - 45 0 0.00 24 4 14.29 LOC101929787 0 genome.wustl.edu 37 1 145018788 145018788 + RNA SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 145018788 145018788 T C SNP LOC101929787 ENST00000610119 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-326G21.1 Clone_based_vega_gene ENSG00000272755 tier1 rs1052063 - 8 0 0.00 2 5 71.43 LOC440040 0 genome.wustl.edu 37 11 49831501 49831501 + RNA SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 49831501 49831501 G A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.555 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 302 0 0.00 92 97 51.05 LRRCC1 0 genome.wustl.edu 37 8 86044118 86044118 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 8 86044118 86044118 C T SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known silent c.1890 p.D630 0.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 tier1 - - 75 0 0.00 105 10 8.70 ME2 0 genome.wustl.edu 37 18 48466002 48466002 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 18 48466002 48466002 G T SNP ME2 ENST00000321341 human ensembl 74_37 +1 known missense c.1480 p.A494S 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 tier1 - - 113 0 0.00 66 4 5.71 MFRP 0 genome.wustl.edu 37 11 119213351 119213351 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 119213351 119213351 C T SNP MFRP ENST00000449574 human ensembl 74_37 -1 known missense c.1342 p.D448N 0.028 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 tier1 rs142846614 - 33 0 0.00 14 12 46.15 MFSD10 0 genome.wustl.edu 37 4 2933849 2933849 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 2933849 2933849 G A SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.725 p.A242V 0.058 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 33 0 0.00 27 2 6.90 MN1 0 genome.wustl.edu 37 22 28194933 28194933 + Silent SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 22 28194933 28194933 T C SNP MN1 ENST00000302326 human ensembl 74_37 -1 known silent c.1599 p.Q533 0.993 NULL NULL - no_errors MN1 HGNC ENSG00000169184 tier1 - - 45 0 0.00 19 4 17.39 MRGPRF 0 genome.wustl.edu 37 11 68773432 68773432 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 68773432 68773432 G A SNP MRGPRF ENST00000309099 human ensembl 74_37 -1 known missense c.346 p.R116C 0.835 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC ENSG00000172935 tier1 - - 99 0 0.00 50 15 23.08 MT-ND5 0 genome.wustl.edu 37 MT 12417 12418 + Frame_Shift_Ins INS - - A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 MT 12417 12418 - A INS MT-ND5 ENST00000361567 human ensembl 74_37 +1 known frame_shift_ins c.81_82 p.N29fs NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 14 0 0.00 2 6 75.00 MTMR10 0 genome.wustl.edu 37 15 31235188 31235188 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 15 31235188 31235188 C T SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.1636 p.A546T 0.387 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 tier1 - - 97 0 0.00 53 4 7.02 MUC5B 0 genome.wustl.edu 37 11 1278831 1278831 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 1278831 1278831 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.16350 p.K5450N 0.000 smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 138 0 0.00 71 4 5.33 MUC6 0 genome.wustl.edu 37 11 1013970 1013972 + In_Frame_Del DEL CTC CTC - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 1013970 1013972 CTC - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known in_frame_del c.7071_7069 p.E2357in_frame_del 0.081:0.065:0.053 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 115 0 0.00 68 19 21.84 MYH8 0 genome.wustl.edu 37 17 10298754 10298754 + Missense_Mutation SNP G G C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 10298754 10298754 G C SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.4658 p.S1553C 1.000 pfam_Myosin_tail,superfamily_t-SNARE pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 tier1 - - 60 0 0.00 63 16 20.25 MYO15A 0 genome.wustl.edu 37 17 18034622 18034622 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 18034622 18034622 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.4108 p.R1370C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,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_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 105 0 0.00 53 32 37.65 MZB1 0 genome.wustl.edu 37 5 138725510 138725512 + In_Frame_Del DEL CAG CAG - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 5 138725510 138725512 CAG - DEL MZB1 ENST00000503481 human ensembl 74_37 -1 known in_frame_del c.36_34 p.L12in_frame_del 0.366:0.352:0.265 NULL NULL - no_errors MZB1 HGNC ENSG00000170476 tier1 26 0 0.00 28 3 9.68 NFKBIZ 0 genome.wustl.edu 37 3 101572494 101572494 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 101572494 101572494 G T SNP NFKBIZ ENST00000326172 human ensembl 74_37 +1 known missense c.1124 p.S375I 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 tier1 - - 57 0 0.00 31 4 11.43 NFX1 0 genome.wustl.edu 37 9 33311168 33311168 + Nonsense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 33311168 33311168 C T SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known nonsense c.1441 p.R481* 1.000 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 tier1 - - 75 0 0.00 23 22 48.89 NLGN1 0 genome.wustl.edu 37 3 173322858 173322858 + Missense_Mutation SNP A A C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 173322858 173322858 A C SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.470 p.N157T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 32 0 0.00 20 11 35.48 NPEPPS 0 genome.wustl.edu 37 17 45695743 45695743 + Nonsense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 45695743 45695743 G T SNP NPEPPS ENST00000322157 human ensembl 74_37 +1 known nonsense c.2323 p.E775* 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors NPEPPS HGNC ENSG00000141279 tier1 - - 97 0 0.00 26 24 48.00 NSUN3 0 genome.wustl.edu 37 3 93795412 93795412 + RNA SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 93795412 93795412 G T SNP NSUN3 ENST00000494128 human ensembl 74_37 +1 putative rna NULL NULL 0.998 - - - no_errors NSUN3 HGNC ENSG00000178694 tier1 - - 21 0 0.00 16 4 20.00 NYAP1 0 genome.wustl.edu 37 7 100084522 100084522 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 100084522 100084522 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known silent c.147 p.I49 0.997 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 tier1 - - 23 0 0.00 20 4 16.67 OR4D11 0 genome.wustl.edu 37 11 59271520 59271520 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 59271520 59271520 G A SNP OR4D11 ENST00000313253 human ensembl 74_37 +1 known missense c.472 p.V158M 0.800 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 tier1 - - 98 0 0.00 57 27 32.14 OR6A2 0 genome.wustl.edu 37 11 6816472 6816472 + Silent SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 6816472 6816472 T C SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known silent c.468 p.G156 0.132 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6A2 HGNC ENSG00000184933 61 0 0.00 40 4 9.09 OTOP3 0 genome.wustl.edu 37 17 72943349 72943349 + Missense_Mutation SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 72943349 72943349 T C SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.1399 p.F467L 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 tier1 - - 40 0 0.00 15 18 54.55 PABPC3 0 genome.wustl.edu 37 13 25670411 25670411 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 13 25670411 25670411 G A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known silent c.75 p.A25 0.997 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 tier1 - - 108 0 0.00 66 11 14.29 PAPD5 0 genome.wustl.edu 37 16 50263692 50263693 + RNA INS - - T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 16 50263692 50263693 - T INS PAPD5 ENST00000573002 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.737 - - - no_errors PAPD5 HGNC ENSG00000121274 tier1 51 0 0.00 33 6 15.38 PAX7 0 genome.wustl.edu 37 1 19071366 19071366 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 19071366 19071366 C T SNP PAX7 ENST00000420770 human ensembl 74_37 +1 known silent c.1461 p.L487 0.019 NULL pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 tier1 - - 79 0 0.00 16 7 30.43 PCDH1 0 genome.wustl.edu 37 5 141244972 141244972 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 5 141244972 141244972 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known silent c.924 p.D308 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 tier1 - - 39 0 0.00 23 9 28.12 PDIA4 0 genome.wustl.edu 37 7 148718188 148718190 + In_Frame_Del DEL TCC TCC - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 148718188 148718190 TCC 0 DEL PDIA4 ENST00000286091 human ensembl 74_37 -1 known in_frame_del c.140_138 p.E47in_frame_del 0.950:0.950:0.167 pirsf_Protein_diS-isomerase_A4 pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 74 0 0.00 59 4 6.35 PIK3R1 0 genome.wustl.edu 37 5 67591135 67591137 + In_Frame_Del DEL GAG GAG - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 5 67591135 67591137 GAG - DEL PIK3R1 ENST00000396611 human ensembl 74_37 +1 known in_frame_del c.1728_1730 p.R577in_frame_del 0.016:0.975:1.000 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 tier1 95 0 0.00 30 14 31.82 PPAP2B 0 genome.wustl.edu 37 1 56990007 56990007 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 56990007 56990007 C T SNP PPAP2B ENST00000371250 human ensembl 74_37 -1 known missense c.517 p.E173K 0.069 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 60 0 0.00 29 2 6.45 PRKCD 0 genome.wustl.edu 37 3 53221364 53221364 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 53221364 53221364 C T SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.1361 p.A454V 0.392 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_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_dom,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,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 90 0 0.00 77 5 6.02 PRRT3 0 genome.wustl.edu 37 3 9990484 9990484 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 9990484 9990484 C T SNP PRRT3 ENST00000295984 human ensembl 74_37 -1 known missense c.1129 p.A377T 0.000 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 tier1 - - 61 0 0.00 57 4 6.56 PSMA3 0 genome.wustl.edu 37 14 58734209 58734209 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 14 58734209 58734209 C T SNP PSMA3 ENST00000216455 human ensembl 74_37 +1 known silent c.561 p.C187 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 tier1 - - 129 0 0.00 73 42 36.52 PTENP1 0 genome.wustl.edu 37 9 33674343 33674344 + RNA INS - - T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 33674343 33674344 - T INS PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.829:0.837 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 17 0 0.00 8 3 27.27 PUS7 0 genome.wustl.edu 37 7 105111289 105111289 + Missense_Mutation SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 105111289 105111289 T C SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known missense c.1244 p.K415R 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 69 0 0.00 53 3 5.36 PVRL2 0 genome.wustl.edu 37 19 45381598 45381600 + In_Frame_Del DEL GAG GAG - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 45381598 45381600 GAG - DEL PVRL2 ENST00000252485 human ensembl 74_37 +1 known in_frame_del c.1161_1163 p.R391in_frame_del 0.999:1.000:1.000 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 tier1 38 0 0.00 27 3 10.00 RABEP2 0 genome.wustl.edu 37 16 28919949 28919949 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 16 28919949 28919949 G A SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known missense c.1226 p.S409L 0.003 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 tier1 - - 59 0 0.00 37 4 9.76 RABGAP1 0 genome.wustl.edu 37 9 125838524 125838524 + Nonsense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 125838524 125838524 G T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known nonsense c.2254 p.G752* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 60 0 0.00 73 4 5.19 RETSAT 0 genome.wustl.edu 37 2 85577118 85577118 + RNA SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 85577118 85577118 C T SNP RETSAT ENST00000482694 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RETSAT HGNC ENSG00000042445 tier1 - - 26 0 0.00 17 4 19.05 RHBDD2 0 genome.wustl.edu 37 7 75511280 75511280 + Silent SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 75511280 75511280 G T SNP RHBDD2 ENST00000006777 human ensembl 74_37 +1 known silent c.312 p.V104 0.012 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD2 HGNC ENSG00000005486 90 0 0.00 72 5 6.49 RHEBL1 0 genome.wustl.edu 37 12 49459167 49459167 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 12 49459167 49459167 G A SNP RHEBL1 ENST00000301068 human ensembl 74_37 -1 known missense c.428 p.A143V 0.929 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHEBL1 HGNC ENSG00000167550 tier1 rs201496596 - 105 0 0.00 24 23 48.94 RIBC2 0 genome.wustl.edu 37 22 45826894 45826894 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 22 45826894 45826894 C T SNP RIBC2 ENST00000538017 human ensembl 74_37 +1 known missense c.1003 p.R335C 0.322 pfam_RIB43A pfam_RIB43A - no_errors RIBC2 HGNC ENSG00000128408 tier1 - - 29 0 0.00 13 14 51.85 RIMS1 0 genome.wustl.edu 37 6 73110998 73110999 + RNA INS - - A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 73110998 73110999 - A INS RIMS1 ENST00000431478 human ensembl 74_37 +1 known rna NULL NULL 0.974:0.049 - - - no_errors RIMS1 HGNC ENSG00000079841 tier1 44 0 0.00 33 12 26.67 RNF10 0 genome.wustl.edu 37 12 121001268 121001268 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 12 121001268 121001268 C A SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known missense c.1388 p.P463Q 0.055 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 28 0 0.00 30 2 6.25 RNF180 0 genome.wustl.edu 37 5 63626151 63626151 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 5 63626151 63626151 G T SNP RNF180 ENST00000389100 human ensembl 74_37 +1 known missense c.1497 p.L499F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC ENSG00000164197 tier1 - - 63 0 0.00 46 5 9.62 RP2 0 genome.wustl.edu 37 X 46713483 46713483 + Silent SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 46713483 46713483 G T SNP RP2 ENST00000218340 human ensembl 74_37 +1 known silent c.675 p.R225 0.970 pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 tier1 - - 32 0 0.00 6 3 33.33 RPL8 0 genome.wustl.edu 37 8 146017167 146017167 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 8 146017167 146017167 C T SNP RPL8 ENST00000262584 human ensembl 74_37 -1 known missense c.271 p.G91S 1.000 superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 75 0 0.00 67 4 5.63 RPRM 0 genome.wustl.edu 37 2 154334954 154334954 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 154334954 154334954 C T SNP RPRM ENST00000325926 human ensembl 74_37 -1 known silent c.126 p.A42 1.000 NULL NULL - no_errors RPRM HGNC ENSG00000177519 tier1 - - 30 0 0.00 12 5 29.41 RRBP1 0 genome.wustl.edu 37 20 17599256 17599256 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 20 17599256 17599256 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.3744 p.S1248 0.052 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 - - 48 0 0.00 37 6 13.95 RTP2 0 genome.wustl.edu 37 3 187416574 187416574 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 187416574 187416574 G A SNP RTP2 ENST00000358241 human ensembl 74_37 -1 known silent c.390 p.Y130 0.974 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 tier1 - - 38 0 0.00 16 6 27.27 S100A11 0 genome.wustl.edu 37 1 152005287 152005287 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 152005287 152005287 G T SNP S100A11 ENST00000271638 human ensembl 74_37 -1 known missense c.169 p.P57T 0.999 pfscan_EF_hand_dom pfam_S100_Ca-bd_sub,pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors S100A11 HGNC ENSG00000163191 50 0 0.00 47 3 6.00 SALL1 0 genome.wustl.edu 37 16 51175536 51175536 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 16 51175536 51175536 G T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.597 p.N199K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 85 0 0.00 37 4 9.76 SDK1 0 genome.wustl.edu 37 7 4218194 4218194 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 4218194 4218194 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5074 p.V1692M 0.986 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 53 0 0.00 35 15 30.00 SEMA5B 0 genome.wustl.edu 37 3 122631054 122631054 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 122631054 122631054 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.3023 p.T1008M 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 tier1 - - 29 0 0.00 10 4 28.57 SFXN4 0 genome.wustl.edu 37 10 120900751 120900751 + RNA SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 10 120900751 120900751 C A SNP SFXN4 ENST00000484960 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SFXN4 HGNC ENSG00000183605 tier1 - - 111 0 0.00 33 35 51.47 SH2D5 0 genome.wustl.edu 37 1 21049287 21049287 + Nonsense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 21049287 21049287 G A SNP SH2D5 ENST00000444387 human ensembl 74_37 -1 known nonsense c.1030 p.Q344* 1.000 pfscan_SH2 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2 - no_errors SH2D5 HGNC ENSG00000189410 tier1 - - 129 0 0.00 46 27 36.99 SHROOM3 0 genome.wustl.edu 37 4 77476876 77476876 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 77476876 77476876 G T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.283 p.V95L 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 tier1 - - 87 0 0.00 34 4 10.53 SLC17A6 0 genome.wustl.edu 37 11 22396359 22396359 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 22396359 22396359 G A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1100 p.G367E 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 73 0 0.00 52 4 7.14 SLC22A2 0 genome.wustl.edu 37 6 160664750 160664750 + Missense_Mutation SNP A A T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 160664750 160664750 A T SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known missense c.1133 p.L378Q 0.992 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 tier1 - - 65 0 0.00 19 30 61.22 SLC30A2 0 genome.wustl.edu 37 1 26365728 26365728 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 26365728 26365728 G T SNP SLC30A2 ENST00000374276 human ensembl 74_37 -1 known missense c.1042 p.H348N 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A2 HGNC ENSG00000158014 50 0 0.00 29 2 6.45 SLC35A2 0 genome.wustl.edu 37 X 48760684 48760684 + Nonsense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 48760684 48760684 G T SNP SLC35A2 ENST00000376529 human ensembl 74_37 -1 known nonsense c.632 p.S211* 0.030 NULL pfam_Nuc_sug_transpt - no_errors SLC35A2 HGNC ENSG00000102100 tier1 - - 52 0 0.00 20 4 16.67 SLC39A8 0 genome.wustl.edu 37 4 103228745 103228745 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 103228745 103228745 G A SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known silent c.400 p.L134 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 tier1 - - 54 0 0.00 17 18 51.43 SLC5A12 0 genome.wustl.edu 37 11 26743173 26743173 + Missense_Mutation SNP A A T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 26743173 26743173 A T SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known missense c.89 p.I30N 0.924 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 tier1 - - 89 0 0.00 29 17 36.96 SLC7A13 0 genome.wustl.edu 37 8 87235208 87235208 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 8 87235208 87235208 G A SNP SLC7A13 ENST00000297524 human ensembl 74_37 -1 known silent c.810 p.L270 0.170 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 tier1 - - 69 0 0.00 64 18 21.95 SLCO6A1 0 genome.wustl.edu 37 5 101834432 101834432 + Silent SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 5 101834432 101834432 C A SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known silent c.117 p.P39 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 66 0 0.00 28 12 30.00 SMAD4 0 genome.wustl.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 18 48591918 48591918 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1081 p.R361C 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 tier1 rs80338963 - 121 0 0.00 19 32 61.54 SMARCA1 0 genome.wustl.edu 37 X 128645853 128645853 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 128645853 128645853 G T SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.738 p.N246K 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 92 0 0.00 57 3 5.00 SMCR8 0 genome.wustl.edu 37 17 18219589 18219589 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 18219589 18219589 G T SNP SMCR8 ENST00000406438 human ensembl 74_37 +1 known missense c.486 p.Q162H 1.000 pfam_Folliculin pfam_Folliculin - no_errors SMCR8 HGNC ENSG00000176994 tier1 - - 71 0 0.00 62 4 6.06 SMOC2 0 genome.wustl.edu 37 6 168999587 168999587 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 168999587 168999587 G A SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.760 p.G254S 0.980 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 tier1 - - 52 0 0.00 28 7 20.00 SOWAHC 0 genome.wustl.edu 37 2 110372640 110372640 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 110372640 110372640 C T SNP SOWAHC ENST00000356454 human ensembl 74_37 +1 known missense c.574 p.L192F 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHC HGNC ENSG00000198142 tier1 - - 15 0 0.00 2 8 80.00 SPPL2C 0 genome.wustl.edu 37 17 43922723 43922723 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 43922723 43922723 G T SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.451 p.A151S 1.000 pfam_Protease-assoc_domain pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 78 0 0.00 44 3 6.38 SPRTN 0 genome.wustl.edu 37 1 231488755 231488755 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 231488755 231488755 C T SNP SPRTN ENST00000295050 human ensembl 74_37 +1 known missense c.1118 p.S373L 0.009 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 tier1 - - 47 0 0.00 15 12 44.44 SRRM4 0 genome.wustl.edu 37 12 119588991 119588991 + Missense_Mutation SNP T T G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 12 119588991 119588991 T G SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1246 p.Y416D 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 tier1 - - 46 0 0.00 24 13 35.14 STAMBPL1 0 genome.wustl.edu 37 10 90672881 90672882 + Frame_Shift_Ins INS - - A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 10 90672881 90672882 - A INS STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_ins c.444_445 p.L150fs 1.000:1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 tier1 66 0 0.00 33 2 5.71 SUCLG2 0 genome.wustl.edu 37 3 67426275 67426275 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 67426275 67426275 C T SNP SUCLG2 ENST00000307227 human ensembl 74_37 -1 known missense c.1192 p.V398I 1.000 pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 tier1 - - 93 0 0.00 53 27 33.75 SYNE1 0 genome.wustl.edu 37 6 152712457 152712457 + Silent SNP A A C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 152712457 152712457 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.7959 p.T2653 0.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 65 0 0.00 53 6 10.17 SYNE2 0 genome.wustl.edu 37 14 64608788 64608790 + In_Frame_Del DEL TCT TCT - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 14 64608788 64608790 TCT - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known in_frame_del c.15288_15290 p.L5098in_frame_del 0.000:0.995:1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 57 0 0.00 33 3 8.33 SYT11 0 genome.wustl.edu 37 1 155837837 155837837 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 155837837 155837837 G A SNP SYT11 ENST00000368324 human ensembl 74_37 +1 known missense c.116 p.C39Y 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 tier1 - - 42 0 0.00 32 4 11.11 TBC1D27 0 genome.wustl.edu 37 17 16826941 16826944 + RNA DEL GCTG GCTG - TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 GCTG GCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 16826941 16826944 GCTG - DEL TBC1D27 ENST00000261651 human ensembl 74_37 -1 known rna NULL NULL 0.942:0.941:0.934:0.905 - - - no_errors TBC1D27 HGNC ENSG00000128438 tier1 8 0 0.00 6 2 25.00 TEKT5 0 genome.wustl.edu 37 16 10788356 10788356 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 16 10788356 10788356 G T SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known missense c.375 p.D125E 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 tier1 - - 53 0 0.00 34 4 10.53 TENM4 0 genome.wustl.edu 37 11 78387280 78387280 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 78387280 78387280 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5413 p.D1805N 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 158 0 0.00 56 49 46.67 TFAP2C 0 genome.wustl.edu 37 20 55212825 55212825 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 20 55212825 55212825 G A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known missense c.1109 p.R370Q 0.992 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 tier1 rs138750457 - 45 0 0.00 22 27 55.10 TFAP2D 0 genome.wustl.edu 37 6 50696969 50696969 + Nonsense_Mutation SNP T T A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 50696969 50696969 T A SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known nonsense c.827 p.L276* 1.000 pfam_TF_AP2_C,prints_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 tier1 - - 61 0 0.00 8 25 75.76 TFR2 0 genome.wustl.edu 37 7 100238328 100238328 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 100238328 100238328 G A SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known missense c.454 p.R152C 0.001 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 45 0 0.00 41 3 6.82 TGFB2 0 genome.wustl.edu 37 1 218607750 218607750 + Silent SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 218607750 218607750 C A SNP TGFB2 ENST00000366929 human ensembl 74_37 +1 known silent c.798 p.I266 1.000 pirsf_TGF-beta,prints_TGFb2 pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta - no_errors TGFB2 HGNC ENSG00000092969 77 0 0.00 57 3 5.00 TLR2 0 genome.wustl.edu 37 4 154625406 154625406 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 154625406 154625406 C T SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known silent c.1347 p.H449 0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 - - 46 0 0.00 23 3 11.54 TMEM248 0 genome.wustl.edu 37 7 66415976 66415976 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 7 66415976 66415976 G T SNP TMEM248 ENST00000341567 human ensembl 74_37 +1 known missense c.634 p.A212S 1.000 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 76 0 0.00 52 3 5.45 TMEM42 0 genome.wustl.edu 37 3 44905743 44905743 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 44905743 44905743 C T SNP TMEM42 ENST00000302392 human ensembl 74_37 +1 known silent c.247 p.L83 0.963 NULL NULL - no_errors TMEM42 HGNC ENSG00000169964 tier1 - - 90 0 0.00 61 30 32.97 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs11540652 - 65 0 0.00 11 44 80.00 TP53INP2 0 genome.wustl.edu 37 20 33297285 33297285 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 20 33297285 33297285 C A SNP TP53INP2 ENST00000374809 human ensembl 74_37 +1 known missense c.370 p.P124T 0.698 NULL NULL - no_errors TP53INP2 HGNC ENSG00000078804 98 0 0.00 92 5 5.15 TRAF3IP2-AS1 0 genome.wustl.edu 37 6 111922218 111922218 + RNA SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 111922218 111922218 T C SNP TRAF3IP2-AS1 ENST00000531702 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C6orf3 Clone_based_vega_gene ENSG00000255389 tier1 - - 12 0 0.00 1 7 87.50 TRAIP 0 genome.wustl.edu 37 3 49881278 49881278 + Nonsense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 3 49881278 49881278 G A SNP TRAIP ENST00000331456 human ensembl 74_37 -1 known nonsense c.364 p.Q122* 1.000 superfamily_Prefoldin pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors TRAIP HGNC ENSG00000183763 tier1 - - 55 0 0.00 27 19 41.30 TRIM64C 0 genome.wustl.edu 37 11 49077928 49077928 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 49077928 49077928 C T SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known silent c.735 p.V245 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 236 0 0.00 163 56 25.57 TTC8 0 genome.wustl.edu 37 14 89305916 89305916 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 14 89305916 89305916 C T SNP TTC8 ENST00000338104 human ensembl 74_37 +1 known missense c.235 p.R79C 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 tier1 - - 55 0 0.00 66 4 5.71 UNC13A 0 genome.wustl.edu 37 19 17758177 17758177 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 17758177 17758177 C A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.2205 p.E735D 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 30 0 0.00 30 2 6.25 USP40 0 genome.wustl.edu 37 2 234438130 234438130 + Silent SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 234438130 234438130 T C SNP USP40 ENST00000450966 human ensembl 74_37 -1 known silent c.1533 p.P511 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 tier1 - - 102 0 0.00 44 28 38.89 VGLL2 0 genome.wustl.edu 37 6 117591852 117591852 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 6 117591852 117591852 G A SNP VGLL2 ENST00000326274 human ensembl 74_37 +1 known missense c.538 p.A180T 0.989 NULL pfam_Vg_Tdu - no_errors VGLL2 HGNC ENSG00000170162 tier1 - - 12 0 0.00 6 4 40.00 WASH3P 0 genome.wustl.edu 37 15 102506929 102506930 + RNA INS - - TATAG TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 15 102506929 102506930 0 TATAG INS WASH3P ENST00000559884 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WASH3P HGNC ENSG00000185596 8 0 0.00 5 3 37.50 WWC2-AS2 0 genome.wustl.edu 37 4 184019123 184019123 + RNA SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 4 184019123 184019123 C T SNP WWC2-AS2 ENST00000506413 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WWC2-AS2 HGNC ENSG00000251359 tier1 - - 31 0 0.00 6 12 66.67 ZAK 0 genome.wustl.edu 37 2 174074531 174074531 + Silent SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 2 174074531 174074531 T C SNP ZAK ENST00000375213 human ensembl 74_37 +1 known silent c.819 p.C273 1.000 pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 34 0 0.00 32 3 8.57 ZBED1 0 genome.wustl.edu 37 X 2408326 2408326 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 X 2408326 2408326 G A SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known silent c.435 p.D145 0.989 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 tier1 - - 79 0 0.00 29 52 64.20 ZDHHC5 0 genome.wustl.edu 37 11 57449967 57449967 + Missense_Mutation SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 11 57449967 57449967 G A SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.178 p.A60T 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 105 0 0.00 45 3 6.25 ZFAND4 0 genome.wustl.edu 37 10 46111990 46111990 + Missense_Mutation SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 10 46111990 46111990 C T SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.2078 p.R693H 1.000 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 tier1 - - 88 0 0.00 39 13 25.00 ZFHX4 0 genome.wustl.edu 37 8 77620259 77620259 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 8 77620259 77620259 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.3069 p.H1023Q 0.983 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 39 0 0.00 12 24 66.67 ZNF169 0 genome.wustl.edu 37 9 97062288 97062288 + Missense_Mutation SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 9 97062288 97062288 G T SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.448 p.D150Y 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 ZNF169 HGNC ENSG00000175787 48 0 0.00 42 3 6.67 ZNF208 0 genome.wustl.edu 37 19 22156812 22156812 + Missense_Mutation SNP T T G TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 22156812 22156812 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1024 p.K342Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 107 0 0.00 53 55 50.46 ZNF23 0 genome.wustl.edu 37 16 71482560 71482560 + Silent SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 16 71482560 71482560 G A SNP ZNF23 ENST00000357254 human ensembl 74_37 -1 known silent c.1368 p.A456 1.000 pfam_Znf_C2H2,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 ZNF23 HGNC ENSG00000167377 tier1 - - 119 0 0.00 12 30 71.43 ZNF234 0 genome.wustl.edu 37 19 44662023 44662023 + Silent SNP C C T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 44662023 44662023 C T SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known silent c.1854 p.H618 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF234 HGNC ENSG00000263002 tier1 - - 94 0 0.00 37 24 39.34 ZNF415 0 genome.wustl.edu 37 19 53625748 53625748 + RNA SNP G G A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 53625748 53625748 G A SNP ZNF415 ENST00000594286 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF415 HGNC ENSG00000170954 tier1 - - 31 0 0.00 25 11 30.56 ZNF521 0 genome.wustl.edu 37 18 22806976 22806976 + Missense_Mutation SNP C C A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 18 22806976 22806976 C A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.906 p.Q302H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 67 0 0.00 13 19 59.38 ZNF676 0 genome.wustl.edu 37 19 22364151 22364151 + Missense_Mutation SNP T T A TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 19 22364151 22364151 T A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.368 p.H123L 0.007 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 156 0 0.00 227 22 8.84 ZP4 0 genome.wustl.edu 37 1 238051808 238051808 + Silent SNP G G T TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6 4966dbe0-8508-4888-8d41-4909e3a71c98 1 238051808 238051808 G T SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known silent c.403 p.R135 0.004 NULL pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 tier1 - - 71 0 0.00 47 4 7.84