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 CDC14A 0 genome.wustl.edu 37 1 100856294 100856294 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 100856294 100856294 A G SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.223 p.S75G 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 53 0 0 41 25 37.8788 COL11A1 0 genome.wustl.edu 37 1 103379199 103379199 + Silent SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 103379199 103379199 A C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.4062 p.G1354 0.823 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 81 0 0 135 51 27.4194 KIF1B 0 genome.wustl.edu 37 1 10356694 10356694 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 10356694 10356694 G A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.1694 p.R565K 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 45 0 0 50 8 13.7931 NTNG1 0 genome.wustl.edu 37 1 107937799 107937799 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 107937799 107937799 C T SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.911 p.T304I 1.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 72 0 0 160 72 31.0345 EPS8L3 0 genome.wustl.edu 37 1 110302334 110302334 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 110302334 110302334 T G SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.221 p.D74A 0.870 pfam_PTB pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 75 0 0 67 6 8.21918 ALX3 0 genome.wustl.edu 37 1 110603359 110603359 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 110603359 110603359 G A SNP ALX3 ENST00000369792 human ensembl 74_37 -1 known missense c.1028 p.T343M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ALX3 HGNC ENSG00000156150 126 0 0 61 28 31.4607 CEPT1 0 genome.wustl.edu 37 1 111726093 111726093 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 111726093 111726093 A G SNP CEPT1 ENST00000357172 human ensembl 74_37 +1 known missense c.1015 p.M339V 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 94 0 0 114 57 33.3333 VPS13D 0 genome.wustl.edu 37 1 12316432 12316432 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 12316432 12316432 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.712 p.V238I 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 252 1 0.395257 176 30 14.5631 ADAMTSL4 0 genome.wustl.edu 37 1 150531794 150531794 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 150531794 150531794 G A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known missense c.2864 p.R955H 0.774 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 119 0 0 58 27 31.7647 TCHH 0 genome.wustl.edu 37 1 152081704 152081704 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 152081704 152081704 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3989 p.R1330H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 364 0 0 248 101 28.9398 HRNR 0 genome.wustl.edu 37 1 152186045 152186045 + Missense_Mutation SNP C C G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 152186045 152186045 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.8060 p.R2687P 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 123 0 0 45 75 62.5 ATP8B2 0 genome.wustl.edu 37 1 154313343 154313343 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 154313343 154313343 C T SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.1147 p.R383C 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8B2 HGNC ENSG00000143515 208 0 0 122 54 30.6818 C1orf85 0 genome.wustl.edu 37 1 156264188 156264188 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 156264188 156264188 T C SNP C1orf85 ENST00000362007 human ensembl 74_37 -1 known missense c.547 p.R183G 0.000 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 87 0 0 55 25 31.25 ARHGEF11 0 genome.wustl.edu 37 1 156906671 156906671 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 156906671 156906671 C T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.4567 p.A1523T 0.979 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 239 0 0 113 73 39.2473 CD1D 0 genome.wustl.edu 37 1 158152853 158152853 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 158152853 158152853 G A SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.793 p.A265T 0.031 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 175 0 0 81 53 39.5522 OR10R2 0 genome.wustl.edu 37 1 158449945 158449945 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 158449945 158449945 A G SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.278 p.Y93C 0.268 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 225 0 0 366 24 6.15385 PVRL4 0 genome.wustl.edu 37 1 161047443 161047443 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 161047443 161047443 G A SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known missense c.530 p.P177L 0.996 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 84 0 0 46 23 33.3333 DDR2 0 genome.wustl.edu 37 1 162749971 162749971 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 162749971 162749971 G T SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.2503 p.D835Y 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 168 0 0 198 97 32.8814 ARHGEF19 0 genome.wustl.edu 37 1 16534699 16534699 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 16534699 16534699 T C SNP ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known missense c.434 p.Q145R 0.991 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 68 0 0 41 20 32.7869 ESPNP 0 genome.wustl.edu 37 1 17030623 17030623 + RNA SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 17030623 17030623 A G SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors ESPNP HGNC ENSG00000268869 42 0 0 35 8 18.6047 PRRC2C 0 genome.wustl.edu 37 1 171557571 171557571 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 171557571 171557571 A G SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.8126 p.Y2709C 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 60 0 0 63 25 28.4091 ATP13A2 0 genome.wustl.edu 37 1 17313329 17313329 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 17313329 17313329 G A SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.3206 p.A1069V 0.834 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 40 0 0 24 11 31.4286 CENPL 0 genome.wustl.edu 37 1 173776423 173776423 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 173776423 173776423 C T SNP CENPL ENST00000356198 human ensembl 74_37 -1 known silent c.402 p.P134 0.038 NULL NULL - no_errors CENPL HGNC ENSG00000120334 88 0 0 48 26 35.1351 TNN 0 genome.wustl.edu 37 1 175067522 175067522 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 175067522 175067522 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1910 p.T637M 0.745 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 149 0 0 94 45 32.3741 RASAL2 0 genome.wustl.edu 37 1 178421736 178421736 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 178421736 178421736 G A SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.1958 p.R653Q 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 112 0 0 126 57 31.1475 ZNF648 0 genome.wustl.edu 37 1 182026670 182026670 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 182026670 182026670 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.476 p.A159V 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 68 0 0 55 26 32.0988 CFHR2 0 genome.wustl.edu 37 1 196927034 196927034 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 196927034 196927034 A C SNP CFHR2 ENST00000367415 human ensembl 74_37 +1 known missense c.444 p.K148N 0.426 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR2 HGNC ENSG00000080910 106 0 0 89 39 30.4688 LAD1 0 genome.wustl.edu 37 1 201358401 201358401 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 201358401 201358401 C T SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known silent c.111 p.E37 0.997 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 57 0 0 41 22 34.9206 IPO9 0 genome.wustl.edu 37 1 201842072 201842072 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 201842072 201842072 G A SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.2693 p.R898H 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 64 0 0 41 23 35.9375 ADIPOR1 0 genome.wustl.edu 37 1 202910745 202910745 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 202910745 202910745 G A SNP ADIPOR1 ENST00000340990 human ensembl 74_37 -1 known missense c.1084 p.R362C 1.000 NULL pfam_HlyIII-related - no_errors ADIPOR1 HGNC ENSG00000159346 80 0 0 84 21 20 TMCC2 0 genome.wustl.edu 37 1 205238475 205238475 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 205238475 205238475 A C SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.1145 p.Q382P 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 54 0 0 33 13 28.2609 IKBKE 0 genome.wustl.edu 37 1 206667321 206667321 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 206667321 206667321 A G SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.2114 p.E705G 0.960 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 123 0 0 59 21 26.25 LAMB3 0 genome.wustl.edu 37 1 209799111 209799111 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 209799111 209799111 G T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.1858 p.L620M 0.959 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 123 0 0 76 28 26.9231 LAMB3 0 genome.wustl.edu 37 1 209800867 209800867 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 209800867 209800867 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known missense c.1346 p.G449E 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 103 0 0 57 14 19.7183 CENPF 0 genome.wustl.edu 37 1 214830442 214830442 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 214830442 214830442 A T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.8652 p.Q2884H 0.866 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 159 1 0.625 175 88 33.4601 ECE1 0 genome.wustl.edu 37 1 21551931 21551931 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 21551931 21551931 G A SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known missense c.1852 p.R618W 0.961 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 55 0 0 31 10 24.3902 RAP1GAP 0 genome.wustl.edu 37 1 21945544 21945544 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 21945544 21945544 G A SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.232 p.R78C 0.994 pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 19 0 0 1 2 66.6667 HSPG2 0 genome.wustl.edu 37 1 22155944 22155944 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 22155944 22155944 G T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.11924 p.P3975H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 125 0 0 83 8 8.79121 HSPG2 0 genome.wustl.edu 37 1 22176578 22176578 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 22176578 22176578 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.7402 p.V2468I 0.900 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 333 0 0 193 96 33.218 CAPN2 0 genome.wustl.edu 37 1 223954100 223954100 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 223954100 223954100 C T SNP CAPN2 ENST00000295006 human ensembl 74_37 +1 known silent c.1722 p.I574 0.017 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 86 0 0 78 11 12.3596 WNT9A 0 genome.wustl.edu 37 1 228109556 228109556 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 228109556 228109556 C T SNP WNT9A ENST00000272164 human ensembl 74_37 -1 known missense c.761 p.G254D 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 143 0 0 114 17 12.9771 EPHA8 0 genome.wustl.edu 37 1 22903024 22903024 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 22903024 22903024 C T SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known silent c.474 p.D158 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 104 0 0 57 29 33.7209 HEATR1 0 genome.wustl.edu 37 1 236749680 236749680 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 236749680 236749680 T C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.1788 p.S596 0.016 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 110 0 0 97 51 34.4595 WDR64 0 genome.wustl.edu 37 1 241904846 241904846 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 241904846 241904846 G A SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known silent c.1320 p.L440 0.958 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 45 0 0 27 29 51.7857 AKT3 0 genome.wustl.edu 37 1 243777027 243777027 + Silent SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 243777027 243777027 G T SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known silent c.642 p.S214 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,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 69 0 0 48 28 36.8421 OR2G3 0 genome.wustl.edu 37 1 247769130 247769130 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 247769130 247769130 C T SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known silent c.243 p.T81 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 353 0 0 377 54 12.529 OR2G3 0 genome.wustl.edu 37 1 247769135 247769135 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 247769135 247769135 T G SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.248 p.V83G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 348 0 0 375 54 12.5874 OR2T6 0 genome.wustl.edu 37 1 248550954 248550954 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 248550954 248550954 G A SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.45 p.M15I 0.135 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 135 0 0 65 45 40.9091 TMEM57 0 genome.wustl.edu 37 1 25818035 25818035 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 25818035 25818035 C T SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known silent c.1752 p.S584 0.949 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 76 0 0 48 20 29.4118 MTFR1L 0 genome.wustl.edu 37 1 26158526 26158526 + RNA SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 26158526 26158526 A G SNP MTFR1L ENST00000469815 human ensembl 74_37 +1 known rna NULL NULL 0.182 - - - no_errors MTFR1L HGNC ENSG00000117640 128 0 0 83 34 29.0598 PTPRU 0 genome.wustl.edu 37 1 29632103 29632103 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 29632103 29632103 A G SNP PTPRU ENST00000323874 human ensembl 74_37 +1 known missense c.2836 p.T946A 0.001 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 51 0 0 24 21 46.6667 GJB4 0 genome.wustl.edu 37 1 35227149 35227149 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 35227149 35227149 C T SNP GJB4 ENST00000339480 human ensembl 74_37 +1 known silent c.294 p.R98 0.000 pfam_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303 - no_errors GJB4 HGNC ENSG00000189433 54 0 0 45 12 21.0526 WRAP73 0 genome.wustl.edu 37 1 3551767 3551767 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 3551767 3551767 C T SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known missense c.695 p.S232N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 93 0 0 52 9 14.7541 GRIK3 0 genome.wustl.edu 37 1 37270641 37270641 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 37270641 37270641 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.2512 p.V838M 1.000 prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 117 0 0 61 23 27.381 HIVEP3 0 genome.wustl.edu 37 1 41976128 41976128 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 41976128 41976128 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.7215 p.N2405 0.025 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 24 0 0 10 3 23.0769 ATP6V0B 0 genome.wustl.edu 37 1 44442008 44442008 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 44442008 44442008 G A SNP ATP6V0B ENST00000472174 human ensembl 74_37 +1 known missense c.235 p.G79R 1.000 pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu - no_errors ATP6V0B HGNC ENSG00000117410 71 0 0 45 23 33.8235 POMGNT1 0 genome.wustl.edu 37 1 46660558 46660558 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 46660558 46660558 G T SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known missense c.610 p.L204M 0.998 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 358 1 0.278552 215 95 30.6452 CYP4X1 0 genome.wustl.edu 37 1 47489571 47489571 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 47489571 47489571 C T SNP CYP4X1 ENST00000371901 human ensembl 74_37 +1 known nonsense c.82 p.Q28* 0.884 NULL 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 CYP4X1 HGNC ENSG00000186377 58 0 0 59 32 35.1648 FAM159A 0 genome.wustl.edu 37 1 53122577 53122577 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 53122577 53122577 C T SNP FAM159A ENST00000517870 human ensembl 74_37 +1 known silent c.438 p.S146 0.013 NULL NULL - no_errors FAM159A HGNC ENSG00000182183 200 0 0 148 70 32.1101 ECHDC2 0 genome.wustl.edu 37 1 53370323 53370323 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 53370323 53370323 G A SNP ECHDC2 ENST00000371522 human ensembl 74_37 -1 known missense c.697 p.P233S 1.000 NULL pfam_Crotonase_core_superfam - no_errors ECHDC2 HGNC ENSG00000121310 34 0 0 26 8 23.5294 ZZZ3 0 genome.wustl.edu 37 1 78098938 78098938 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 78098938 78098938 C T SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known silent c.102 p.A34 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 135 0 0 146 74 33.6364 RERE 0 genome.wustl.edu 37 1 8418331 8418331 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 8418331 8418331 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.4264 p.V1422M 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 74 0 0 28 21 42.8571 NOC2L 0 genome.wustl.edu 37 1 887854 887854 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 887854 887854 C T SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known missense c.1129 p.A377T 0.997 pfam_Noc2,superfamily_ARM-type_fold pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 93 0 0 37 14 27.451 KLHL17 0 genome.wustl.edu 37 1 899343 899343 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 899343 899343 G A SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known missense c.1399 p.A467T 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 288 1 0.346021 142 61 30.0493 BRDT 0 genome.wustl.edu 37 1 92445140 92445140 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 92445140 92445140 G A SNP BRDT ENST00000362005 human ensembl 74_37 +1 known silent c.1113 p.T371 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 123 0 0 113 10 8.13008 MTF2 0 genome.wustl.edu 37 1 93602291 93602291 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 93602291 93602291 C T SNP MTF2 ENST00000370298 human ensembl 74_37 +1 known missense c.1489 p.R497W 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC ENSG00000143033 140 0 0 113 47 29.375 PIK3CD 0 genome.wustl.edu 37 1 9784908 9784908 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 9784908 9784908 G A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.2983 p.G995R 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 158 0 0 69 38 35.514 AGRN 0 genome.wustl.edu 37 1 980540 980540 + Splice_Site SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 980540 980540 G T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known splice_site c.2255-1 e13-1 0.036 - - - no_errors AGRN HGNC ENSG00000188157 51 0 0 39 5 11.3636 CNNM1 0 genome.wustl.edu 37 10 101089442 101089442 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 101089442 101089442 G A SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known missense c.298 p.G100S 0.053 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 13 0 0 8 4 33.3333 GSTO2 0 genome.wustl.edu 37 10 106059034 106059034 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 106059034 106059034 C T SNP GSTO2 ENST00000338595 human ensembl 74_37 +1 known silent c.724 p.L242 0.995 NULL pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO2 HGNC ENSG00000065621 164 0 0 146 16 9.87654 CDC123 0 genome.wustl.edu 37 10 12292485 12292485 + RNA SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 12292485 12292485 A G SNP CDC123 ENST00000498747 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CDC123 HGNC ENSG00000151465 10 0 0 8 2 20 FGFR2 0 genome.wustl.edu 37 10 123244911 123244911 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 123244911 123244911 T C SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known silent c.2196 p.E732 0.970 pirsf_FGF_rcpt_fam,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 327 0 0 225 113 33.432 TACC2 0 genome.wustl.edu 37 10 123847368 123847368 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 123847368 123847368 A G SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.5353 p.I1785V 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 76 0 0 67 6 8.21918 DMBT1 0 genome.wustl.edu 37 10 124337331 124337331 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 124337331 124337331 C A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.612 p.A204 0.000 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 126 0 0 82 33 28.6957 CPXM2 0 genome.wustl.edu 37 10 125601941 125601941 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 125601941 125601941 G A SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known nonsense c.577 p.Q193* 1.000 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_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 78 0 0 67 24 26.3736 DOCK1 0 genome.wustl.edu 37 10 128926004 128926004 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 128926004 128926004 C A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known silent c.2760 p.S920 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 45 0 0 28 21 42.8571 FAM196A 0 genome.wustl.edu 37 10 128974096 128974096 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 128974096 128974096 C A SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.564 p.L188F 0.000 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 116 0 0 64 44 40.7407 OPTN 0 genome.wustl.edu 37 10 13169777 13169777 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 13169777 13169777 A G SNP OPTN ENST00000263036 human ensembl 74_37 +1 known silent c.1275 p.E425 0.986 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 129 0 0 106 16 13.1148 KNDC1 0 genome.wustl.edu 37 10 135020777 135020777 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 135020777 135020777 A C SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.3722 p.K1241T 0.997 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 82 0 0 45 29 39.1892 TUBGCP2 0 genome.wustl.edu 37 10 135102440 135102440 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 135102440 135102440 C T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.1529 p.R510Q 1.000 pfam_TUBGCP,superfamily_Ocr pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 140 0 0 98 8 7.54717 VIM 0 genome.wustl.edu 37 10 17271880 17271880 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 17271880 17271880 G A SNP VIM ENST00000224237 human ensembl 74_37 +1 known silent c.459 p.E153 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 22 0 0 10 7 41.1765 MLLT10 0 genome.wustl.edu 37 10 22022455 22022455 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 22022455 22022455 C T SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known silent c.2430 p.N810 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 11 0 0 10 5 33.3333 LRRC37A6P 0 genome.wustl.edu 37 10 27539297 27539297 + RNA SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 27539297 27539297 A G SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors LRRC37A6P HGNC ENSG00000230445 73 0 0 48 30 38.4615 PTCHD3 0 genome.wustl.edu 37 10 27702585 27702585 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 27702585 27702585 C T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.595 p.A199T 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 207 0 0 182 13 6.66667 SVIL 0 genome.wustl.edu 37 10 29777649 29777649 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 29777649 29777649 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.4229 p.A1410V 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 37 0 0 15 5 25 SVIL 0 genome.wustl.edu 37 10 29821472 29821472 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 29821472 29821472 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.1824 p.C608 0.979 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 49 0 0 33 8 19.5122 SVIL 0 genome.wustl.edu 37 10 29840037 29840037 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 29840037 29840037 C T SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.316 p.A106T 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 240 0 0 142 65 31.401 MTPAP 0 genome.wustl.edu 37 10 30630507 30630507 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 30630507 30630507 C T SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.610 p.A204T 1.000 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 90 0 0 73 24 24.7423 ZEB1 0 genome.wustl.edu 37 10 31791274 31791274 + Splice_Site SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 31791274 31791274 A G SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known splice_site c.323-2 e4-2 1.000 - - - no_errors ZEB1 HGNC ENSG00000148516 44 0 0 42 14 25 ITGB1 0 genome.wustl.edu 37 10 33214797 33214797 + Splice_Site SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 33214797 33214797 A G SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known splice_site c.786+2 e5+2 1.000 - - - no_errors ITGB1 HGNC ENSG00000150093 84 0 0 106 61 36.5269 ANKRD16 0 genome.wustl.edu 37 10 5920141 5920141 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 5920141 5920141 T C SNP ANKRD16 ENST00000380092 human ensembl 74_37 -1 known silent c.1038 p.P346 0.003 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 ANKRD16 HGNC ENSG00000134461 368 0 0 230 121 34.4729 ENSG00000197604 0 genome.wustl.edu 37 10 72195099 72195099 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 72195099 72195099 G A SNP ENSG00000197604 ENST00000420338 human ensembl 74_37 +1 novel missense c.46 p.A16T 0.990 NULL NULL - no_errors AC022532.1 Clone_based_ensembl_gene ENSG00000197604 49 0 0 20 10 33.3333 PRF1 0 genome.wustl.edu 37 10 72358611 72358611 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 72358611 72358611 G A SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.866 p.T289M 0.000 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 171 0 0 97 38 28.1481 UNC5B 0 genome.wustl.edu 37 10 73046593 73046593 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 73046593 73046593 C T SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.700 p.R234C 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 406 0 0 208 89 29.9663 SYNPO2L 0 genome.wustl.edu 37 10 75406786 75406786 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 75406786 75406786 G T SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.2624 p.A875D 0.005 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 284 0 0 244 21 7.92453 DLG5 0 genome.wustl.edu 37 10 79554615 79554615 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 79554615 79554615 C A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.5538 p.K1846N 0.934 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 60 0 0 57 10 14.9254 LRIT2 0 genome.wustl.edu 37 10 85981859 85981859 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 85981859 85981859 G A SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known silent c.1500 p.C500 0.898 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 97 0 0 81 40 33.0579 ENSG00000270002 0 genome.wustl.edu 37 10 87406758 87406758 + RNA SNP C C G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 87406758 87406758 C G SNP ENSG00000270002 ENST00000474115 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-93H12.4 Clone_based_vega_gene ENSG00000270002 12 0 0 6 5 45.4545 GRID1 0 genome.wustl.edu 37 10 87482810 87482810 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 87482810 87482810 T C SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.1947 p.T649 0.003 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 38 0 0 23 8 25.8065 BTAF1 0 genome.wustl.edu 37 10 93784638 93784638 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 93784638 93784638 T C SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known silent c.4989 p.D1663 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 142 0 0 125 63 33.5106 MYOF 0 genome.wustl.edu 37 10 95095752 95095752 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 95095752 95095752 A G SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.4489 p.F1497L 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 205 0 0 135 72 34.7826 MORN4 0 genome.wustl.edu 37 10 99377076 99377076 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 99377076 99377076 C T SNP MORN4 ENST00000335628 human ensembl 74_37 -1 known missense c.245 p.R82H 1.000 pfam_MORN pfam_MORN,smart_MORN - no_errors MORN4 HGNC ENSG00000171160 108 0 0 70 46 39.6552 AMPD3 0 genome.wustl.edu 37 11 10483178 10483178 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 10483178 10483178 C A SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.112 p.L38M 0.942 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 86 0 0 52 34 39.5349 LYVE1 0 genome.wustl.edu 37 11 10582327 10582327 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 10582327 10582327 T C SNP LYVE1 ENST00000256178 human ensembl 74_37 -1 known missense c.418 p.I140V 0.000 superfamily_C-type_lectin_fold pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link - no_errors LYVE1 HGNC ENSG00000133800 259 0 0 252 102 28.8136 NXPE2 0 genome.wustl.edu 37 11 114569334 114569334 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 114569334 114569334 A G SNP NXPE2 ENST00000389586 human ensembl 74_37 +1 known missense c.700 p.T234A 0.006 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE2 HGNC ENSG00000204361 48 0 0 45 22 32.8358 CEP164 0 genome.wustl.edu 37 11 117261607 117261607 + Silent SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 117261607 117261607 A T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.2049 p.A683 0.001 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 124 0 0 68 33 32.6733 AMICA1 0 genome.wustl.edu 37 11 118083204 118083204 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 118083204 118083204 A G SNP AMICA1 ENST00000356289 human ensembl 74_37 -1 known missense c.116 p.L39P 0.333 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 71 0 0 73 47 39.1667 KMT2A 0 genome.wustl.edu 37 11 118359351 118359351 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 118359351 118359351 G T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.4355 p.C1452F 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 105 0 0 74 35 32.1101 TECTA 0 genome.wustl.edu 37 11 120989148 120989148 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 120989148 120989148 A C SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.924 p.K308N 1.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 149 0 0 82 36 30.5085 TECTA 0 genome.wustl.edu 37 11 120996139 120996139 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 120996139 120996139 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.1332 p.Y444 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 782 1 0.127714 453 190 29.549 ZNF202 0 genome.wustl.edu 37 11 123601252 123601252 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 123601252 123601252 C A SNP ZNF202 ENST00000336139 human ensembl 74_37 -1 known missense c.345 p.E115D 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 215 0 0 133 50 27.3224 SLC37A2 0 genome.wustl.edu 37 11 124956241 124956241 + RNA SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 124956241 124956241 T C SNP SLC37A2 ENST00000525837 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC37A2 HGNC ENSG00000134955 97 0 0 43 29 40.2778 SRPR 0 genome.wustl.edu 37 11 126135974 126135974 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 126135974 126135974 G A SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.935 p.A312V 1.000 superfamily_Signal_recog_particl_SRP54_hlx pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 323 1 0.308642 177 91 33.9552 GLB1L2 0 genome.wustl.edu 37 11 134241040 134241040 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 134241040 134241040 C A SNP GLB1L2 ENST00000339772 human ensembl 74_37 +1 known missense c.1354 p.Q452K 0.996 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 194 0 0 131 53 28.8043 ABCC8 0 genome.wustl.edu 37 11 17483306 17483306 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 17483306 17483306 G A SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.646 p.R216C 0.999 prints_Sulphorea_rcpt pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 147 0 0 91 50 35.461 MRGPRE 0 genome.wustl.edu 37 11 3249927 3249927 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 3249927 3249927 C T SNP MRGPRE ENST00000389832 human ensembl 74_37 -1 known missense c.103 p.G35S 0.036 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRE HGNC ENSG00000184350 177 0 0 94 51 35.1724 ELF5 0 genome.wustl.edu 37 11 34502322 34502322 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 34502322 34502322 A G SNP ELF5 ENST00000312319 human ensembl 74_37 -1 known missense c.698 p.L233P 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF5 HGNC ENSG00000135374 171 0 0 150 19 11.2426 OR52B4 0 genome.wustl.edu 37 11 4389524 4389524 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 4389524 4389524 A G SNP OR52B4 ENST00000408920 human ensembl 74_37 -1 known missense c.2 p.M1T 0.919 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B4 HGNC ENSG00000221996 13 0 0 30 11 26.8293 NDUFS3 0 genome.wustl.edu 37 11 47602323 47602323 + RNA SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 47602323 47602323 A G SNP NDUFS3 ENST00000533507 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFS3 HGNC ENSG00000213619 125 0 0 55 42 43.299 OR4C46 0 genome.wustl.edu 37 11 51515361 51515361 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 51515361 51515361 T C SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known missense c.80 p.V27A 0.023 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 177 0 0 171 73 29.918 HBB 0 genome.wustl.edu 37 11 5248013 5248013 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 5248013 5248013 G C SNP HBB ENST00000335295 human ensembl 74_37 -1 known missense c.109 p.P37A 1.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b - no_errors HBB HGNC ENSG00000244734 90 0 0 59 33 35.8696 OR51I2 0 genome.wustl.edu 37 11 5475505 5475505 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 5475505 5475505 C T SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known missense c.787 p.R263C 0.960 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I2 HGNC ENSG00000187918 238 0 0 178 77 30.1961 OR5W2 0 genome.wustl.edu 37 11 55681941 55681941 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 55681941 55681941 A G SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.118 p.S40P 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 79 0 0 63 20 24.0964 OR5W2 0 genome.wustl.edu 37 11 55681953 55681953 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 55681953 55681953 T C SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.106 p.I36V 0.433 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 82 0 0 63 20 24.0964 OR9G1 0 genome.wustl.edu 37 11 56467894 56467894 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 56467894 56467894 T C SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known missense c.31 p.F11L 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 59 0 0 116 7 5.69106 ZFP91 0 genome.wustl.edu 37 11 58378437 58378437 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 58378437 58378437 A T SNP ZFP91 ENST00000316059 human ensembl 74_37 +1 known missense c.632 p.E211V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP91 HGNC ENSG00000186660 55 0 0 49 21 30 PATL1 0 genome.wustl.edu 37 11 59416970 59416970 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 59416970 59416970 A G SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known silent c.1698 p.Y566 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 40 0 0 27 26 49.0566 STX3 0 genome.wustl.edu 37 11 59564791 59564791 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 59564791 59564791 G A SNP STX3 ENST00000337979 human ensembl 74_37 +1 known silent c.822 p.L274 1.000 NULL pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC ENSG00000166900 153 1 0.649351 128 47 26.8571 INCENP 0 genome.wustl.edu 37 11 61917561 61917561 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 61917561 61917561 G A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known silent c.2424 p.P808 0.563 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 126 1 0.787402 76 32 29.6296 BSCL2 0 genome.wustl.edu 37 11 62473007 62473007 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 62473007 62473007 G A SNP BSCL2 ENST00000360796 human ensembl 74_37 -1 known missense c.170 p.A57V 0.206 NULL pfam_Adipose-reg_protein_Seipin - no_errors BSCL2 HGNC ENSG00000168000 42 0 0 21 13 38.2353 PYGM 0 genome.wustl.edu 37 11 64525753 64525753 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 64525753 64525753 C A SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.493 p.G165W 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 265 0 0 139 70 33.4928 LTBP3 0 genome.wustl.edu 37 11 65321785 65321785 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 65321785 65321785 G A SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.398 p.P133L 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 31 0 0 19 11 36.6667 AP5B1 0 genome.wustl.edu 37 11 65547034 65547034 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 65547034 65547034 C T SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel silent c.930 p.P310 0.227 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 31 0 0 18 11 37.931 ILK 0 genome.wustl.edu 37 11 6630183 6630183 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 6630183 6630183 A G SNP ILK ENST00000299421 human ensembl 74_37 +1 known missense c.517 p.T173A 1.000 superfamily_Kinase-like_dom,pirsf_Integrin-linked_kinase pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 219 1 0.454545 134 41 23.4286 TCIRG1 0 genome.wustl.edu 37 11 67818098 67818098 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 67818098 67818098 T G SNP TCIRG1 ENST00000265686 human ensembl 74_37 +1 known missense c.2381 p.L794R 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors TCIRG1 HGNC ENSG00000110719 175 0 0 108 19 14.9606 OR10A4 0 genome.wustl.edu 37 11 6898607 6898607 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 6898607 6898607 C T SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known silent c.729 p.S243 0.980 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 113 0 0 84 55 39.5683 P2RY6 0 genome.wustl.edu 37 11 73007624 73007624 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 73007624 73007624 C T SNP P2RY6 ENST00000349767 human ensembl 74_37 +1 known missense c.61 p.R21C 0.411 prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt - no_errors P2RY6 HGNC ENSG00000171631 348 0 0 157 112 41.6357 PRDM4 0 genome.wustl.edu 37 12 108147777 108147777 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 108147777 108147777 T C SNP PRDM4 ENST00000228437 human ensembl 74_37 -1 known silent c.255 p.L85 0.988 pirsf_Znf_PRDM4 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM4 HGNC ENSG00000110851 138 0 0 74 48 39.3443 CIT 0 genome.wustl.edu 37 12 120208708 120208708 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 120208708 120208708 G A SNP CIT ENST00000392521 human ensembl 74_37 -1 novel missense c.2089 p.R697C 1.000 pirsf_Citron_Rho-interacting_kinase,prints_Tropomyosin pirsf_Citron_Rho-interacting_kinase,pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,prints_Tropomyosin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 115 0 0 90 13 12.6214 PITPNM2 0 genome.wustl.edu 37 12 123490022 123490022 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 123490022 123490022 C A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.717 p.M239I 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 312 0 0 195 33 14.4737 TCTN2 0 genome.wustl.edu 37 12 124155800 124155800 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 124155800 124155800 C T SNP TCTN2 ENST00000303372 human ensembl 74_37 +1 known missense c.13 p.P5S 0.003 NULL pfam_DUF1619 - no_errors TCTN2 HGNC ENSG00000168778 43 0 0 14 9 39.1304 DNAH10 0 genome.wustl.edu 37 12 124265777 124265777 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 124265777 124265777 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.589 p.R197W 0.814 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 368 0 0 256 126 32.9843 MANSC1 0 genome.wustl.edu 37 12 12491412 12491412 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 12491412 12491412 G A SNP MANSC1 ENST00000535902 human ensembl 74_37 -1 known silent c.306 p.N102 0.868 pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC1 HGNC ENSG00000111261 198 0 0 138 78 36.1111 TMEM132D 0 genome.wustl.edu 37 12 129559011 129559011 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 129559011 129559011 C A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.2709 p.G903 0.001 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 153 0 0 103 51 33.1169 TMEM132D 0 genome.wustl.edu 37 12 129559436 129559436 + Nonsense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 129559436 129559436 C A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known nonsense c.2284 p.G762* 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 172 0 0 98 30 23.4375 RIMBP2 0 genome.wustl.edu 37 12 130884319 130884319 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 130884319 130884319 A T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.3037 p.F1013I 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 115 0 0 92 5 5.15464 RIMBP2 0 genome.wustl.edu 37 12 130898840 130898840 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 130898840 130898840 G A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known nonsense c.2482 p.R828* 0.985 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 92 0 0 57 4 6.55738 EP400 0 genome.wustl.edu 37 12 132464315 132464315 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 132464315 132464315 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.1520 p.A507V 0.187 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 49 0 0 22 9 29.0323 EP400 0 genome.wustl.edu 37 12 132511986 132511986 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 132511986 132511986 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.5127 p.G1709 0.997 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 100 0 0 39 19 32.7586 SLCO1B3 0 genome.wustl.edu 37 12 21229503 21229503 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 21229503 21229503 G T SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.2048 p.G683V 0.998 superfamily_MFS_dom_general_subst_transpt pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 84 0 0 119 59 33.1461 LINC00477 0 genome.wustl.edu 37 12 24736450 24736450 + RNA SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 24736450 24736450 A G SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors LINC00477 HGNC ENSG00000197503 53 0 0 35 8 18.6047 HDAC7 0 genome.wustl.edu 37 12 48183343 48183343 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 48183343 48183343 G A SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.2161 p.R721W 0.997 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 56 0 0 54 5 8.47458 GPD1 0 genome.wustl.edu 37 12 50499353 50499353 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 50499353 50499353 A G SNP GPD1 ENST00000301149 human ensembl 74_37 +1 known missense c.242 p.Q81R 1.000 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1 HGNC ENSG00000167588 96 0 0 53 17 24.2857 KRT73 0 genome.wustl.edu 37 12 53004555 53004555 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 53004555 53004555 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.1175 p.A392V 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 85 0 0 51 26 33.7662 KRT8 0 genome.wustl.edu 37 12 53298482 53298482 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 53298482 53298482 A T SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.284 p.I95N 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 213 0 0 105 55 34.375 ERBB3 0 genome.wustl.edu 37 12 56482560 56482560 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 56482560 56482560 C T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known silent c.1017 p.R339 0.992 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 196 0 0 139 81 36.8182 ANKRD52 0 genome.wustl.edu 37 12 56642004 56642004 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 56642004 56642004 T C SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.1781 p.Y594C 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 171 0 0 126 11 8.0292 BAZ2A 0 genome.wustl.edu 37 12 56994529 56994529 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 56994529 56994529 A G SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.4544 p.L1515P 0.999 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 289 0 0 184 70 27.5591 GLI1 0 genome.wustl.edu 37 12 57858512 57858512 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 57858512 57858512 T C SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.250 p.S84P 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 94 0 0 42 25 37.3134 AVIL 0 genome.wustl.edu 37 12 58209783 58209783 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 58209783 58209783 G A SNP AVIL ENST00000257861 human ensembl 74_37 -1 known missense c.41 p.P14L 0.994 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 66 0 0 42 22 34.375 CD27 0 genome.wustl.edu 37 12 6554270 6554270 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 6554270 6554270 G A SNP CD27 ENST00000266557 human ensembl 74_37 +1 known silent c.9 p.R3 0.013 prints_TNFR_7 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 19 0 0 14 5 26.3158 CHD4 0 genome.wustl.edu 37 12 6697051 6697051 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 6697051 6697051 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.3530 p.R1177H 0.994 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 112 0 0 77 38 33.0435 NUP107 0 genome.wustl.edu 37 12 69109437 69109437 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 69109437 69109437 C T SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.1000 p.P334S 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 215 1 0.462963 133 50 27.3224 PTPRR 0 genome.wustl.edu 37 12 71094956 71094956 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 71094956 71094956 G A SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known silent c.1155 p.D385 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 40 0 0 116 58 33.3333 TRHDE 0 genome.wustl.edu 37 12 72666574 72666574 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 72666574 72666574 G A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.16 p.A6T 0.996 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 16 0 0 11 5 31.25 PPFIA2 0 genome.wustl.edu 37 12 81657028 81657028 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 81657028 81657028 T C SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3697 p.R1233G 0.988 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 11 0 0 15 3 16.6667 CD69 0 genome.wustl.edu 37 12 9907700 9907700 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 9907700 9907700 T C SNP CD69 ENST00000228434 human ensembl 74_37 -1 known silent c.345 p.E115 0.037 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD69 HGNC ENSG00000110848 110 0 0 97 48 33.1034 TNFRSF19 0 genome.wustl.edu 37 13 24233283 24233283 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 24233283 24233283 C T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known silent c.540 p.T180 0.127 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 107 0 0 46 29 38.6667 STARD13 0 genome.wustl.edu 37 13 33704065 33704065 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 33704065 33704065 T G SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.749 p.K250T 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 164 0 0 86 45 34.3511 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36748962 36748962 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 36748962 36748962 G A SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.917 p.P306L 0.952 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 116 0 0 93 25 21.1864 CCNA1 0 genome.wustl.edu 37 13 37012966 37012966 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 37012966 37012966 A G SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known silent c.855 p.K285 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 176 0 0 140 45 24.3243 DGKH 0 genome.wustl.edu 37 13 42701682 42701682 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 42701682 42701682 C T SNP DGKH ENST00000337343 human ensembl 74_37 +1 known silent c.276 p.R92 0.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 38 0 0 34 22 39.2857 CCDC122 0 genome.wustl.edu 37 13 44434049 44434049 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 44434049 44434049 A G SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known missense c.314 p.V105A 0.994 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 69 0 0 79 38 32.4786 PCDH9 0 genome.wustl.edu 37 13 67801050 67801050 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 67801050 67801050 A G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.1523 p.L508P 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 PCDH9 HGNC ENSG00000184226 162 0 0 144 70 32.7103 LMO7 0 genome.wustl.edu 37 13 76432182 76432182 + RNA SNP T T A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 76432182 76432182 T A SNP LMO7 ENST00000605961 human ensembl 74_37 +1 known rna NULL NULL 0.669 - - - no_errors LMO7 HGNC ENSG00000136153 34 0 0 19 17 47.2222 POU4F1 0 genome.wustl.edu 37 13 79175974 79175974 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 79175974 79175974 C T SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known missense c.836 p.R279H 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 29 0 0 12 10 45.4545 SLITRK5 0 genome.wustl.edu 37 13 88328786 88328786 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 88328786 88328786 C A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1143 p.N381K 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 94 0 0 54 26 32.5 GPC5 0 genome.wustl.edu 37 13 92101092 92101092 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 92101092 92101092 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.241 p.A81T 0.757 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 51 0 0 145 12 7.64331 ABCC4 0 genome.wustl.edu 37 13 95840745 95840745 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 95840745 95840745 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.1315 p.E439K 0.982 superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 119 0 0 81 40 33.0579 FARP1 0 genome.wustl.edu 37 13 99037041 99037041 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 99037041 99037041 A G SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known missense c.554 p.Y185C 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 108 0 0 93 12 11.4286 PARP2 0 genome.wustl.edu 37 14 20818769 20818769 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 20818769 20818769 A G SNP PARP2 ENST00000250416 human ensembl 74_37 +1 known missense c.448 p.R150G 1.000 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 126 0 0 72 45 38.4615 PNP 0 genome.wustl.edu 37 14 20942680 20942680 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 20942680 20942680 C A SNP PNP ENST00000361505 human ensembl 74_37 +1 known silent c.231 p.A77 0.199 pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase pfam_Nucleoside_phosphorylase_d,tigrfam_Pur_Nuc_Pase_Ino/Guo-sp,tigrfam_Purine_phosphorylase - no_errors PNP HGNC ENSG00000198805 109 0 0 62 23 27.0588 EFS 0 genome.wustl.edu 37 14 23829429 23829429 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 23829429 23829429 C A SNP EFS ENST00000216733 human ensembl 74_37 -1 known missense c.359 p.C120F 0.950 NULL pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 157 0 0 100 46 31.5068 NPAS3 0 genome.wustl.edu 37 14 34269602 34269602 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 34269602 34269602 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.2089 p.G697S 0.736 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 83 0 0 40 36 47.3684 SSTR1 0 genome.wustl.edu 37 14 38679277 38679277 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 38679277 38679277 T C SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.683 p.F228S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 74 0 0 51 18 26.087 MGAT2 0 genome.wustl.edu 37 14 50088621 50088621 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 50088621 50088621 A G SNP MGAT2 ENST00000305386 human ensembl 74_37 +1 known missense c.635 p.N212S 1.000 pfam_GlcNAc_II pfam_GlcNAc_II - no_errors MGAT2 HGNC ENSG00000168282 247 0 0 117 64 35.3591 ZFYVE26 0 genome.wustl.edu 37 14 68238816 68238816 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 68238816 68238816 G A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.5432 p.P1811L 0.997 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 31 0 0 25 8 24.2424 AHSA1 0 genome.wustl.edu 37 14 77935519 77935519 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 77935519 77935519 C T SNP AHSA1 ENST00000216479 human ensembl 74_37 +1 known missense c.944 p.T315M 1.000 pfam_Activator_of_Hsp90_ATPase pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 385 1 0.259067 196 85 30.2491 UNC79 0 genome.wustl.edu 37 14 93954017 93954017 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 93954017 93954017 T C SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.628 p.S210P 0.981 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 108 0 0 84 44 34.375 C14orf177 0 genome.wustl.edu 37 14 99182697 99182697 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 99182697 99182697 G A SNP C14orf177 ENST00000325812 human ensembl 74_37 +1 known missense c.169 p.A57T 0.000 NULL NULL - no_errors C14orf177 HGNC ENSG00000176605 45 0 0 25 8 24.2424 GABRG3 0 genome.wustl.edu 37 15 27725940 27725940 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 27725940 27725940 A C SNP GABRG3 ENST00000555083 human ensembl 74_37 +1 putative missense c.719 p.N240T 0.007 superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_Neur_channel,prints_GABAAa_rcpt - no_errors GABRG3 HGNC ENSG00000182256 25 0 0 13 7 35 HERC2 0 genome.wustl.edu 37 15 28473458 28473458 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 28473458 28473458 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.5370 p.L1790 0.954 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 70 0 0 36 21 36.8421 CHRNA7 0 genome.wustl.edu 37 15 32460285 32460285 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 32460285 32460285 G A SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known missense c.1222 p.A408T 0.028 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 49 0 0 34 20 37.037 FMN1 0 genome.wustl.edu 37 15 33359423 33359423 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 33359423 33359423 G A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known silent c.663 p.N221 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 81 0 0 60 33 35.4839 FAM98B 0 genome.wustl.edu 37 15 38773701 38773701 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 38773701 38773701 T C SNP FAM98B ENST00000491535 human ensembl 74_37 +1 known missense c.938 p.I313T 0.004 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98B HGNC ENSG00000171262 56 0 0 40 20 33.3333 PLA2G4D 0 genome.wustl.edu 37 15 42371822 42371822 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 42371822 42371822 C A SNP PLA2G4D ENST00000290472 human ensembl 74_37 -1 known silent c.1230 p.R410 0.472 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4D HGNC ENSG00000159337 57 0 0 36 15 29.4118 LIPC 0 genome.wustl.edu 37 15 58838067 58838067 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 58838067 58838067 T C SNP LIPC ENST00000299022 human ensembl 74_37 +1 known missense c.701 p.I234T 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipo_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 160 0 0 148 12 7.5 RAB8B 0 genome.wustl.edu 37 15 63551864 63551864 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 63551864 63551864 C T SNP RAB8B ENST00000321437 human ensembl 74_37 +1 known silent c.453 p.S151 0.993 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8B HGNC ENSG00000166128 85 0 0 52 16 23.5294 CLPX 0 genome.wustl.edu 37 15 65450095 65450095 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 65450095 65450095 T G SNP CLPX ENST00000300107 human ensembl 74_37 -1 known missense c.1046 p.K349T 1.000 pfam_ATPase_AAA-2,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 205 0 0 232 15 6.07287 PARP16 0 genome.wustl.edu 37 15 65551732 65551732 + RNA SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 65551732 65551732 A G SNP PARP16 ENST00000560149 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PARP16 HGNC ENSG00000138617 457 0 0 296 105 26.1845 MAN2C1 0 genome.wustl.edu 37 15 75651071 75651071 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 75651071 75651071 G A SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known silent c.2220 p.D740 0.613 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 50 0 0 26 14 35 BNC1 0 genome.wustl.edu 37 15 83935708 83935708 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 83935708 83935708 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known silent c.315 p.P105 0.274 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 113 0 0 66 38 36.5385 ZSCAN2 0 genome.wustl.edu 37 15 85165031 85165031 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 85165031 85165031 C T SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known silent c.1605 p.C535 0.746 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 262 1 0.380228 142 71 33.3333 MRPS11 0 genome.wustl.edu 37 15 89010975 89010975 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 89010975 89010975 G A SNP MRPS11 ENST00000325844 human ensembl 74_37 +1 known silent c.27 p.S9 0.000 NULL pfam_Ribosomal_S11 - no_errors MRPS11 HGNC ENSG00000181991 86 0 0 62 5 7.46269 IQGAP1 0 genome.wustl.edu 37 15 91037956 91037956 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 91037956 91037956 A G SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.4640 p.K1547R 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 128 0 0 101 15 12.931 RGMA 0 genome.wustl.edu 37 15 93588281 93588281 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 93588281 93588281 G C SNP RGMA ENST00000329082 human ensembl 74_37 -1 known missense c.1300 p.P434A 0.000 NULL pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 9 0 0 6 10 62.5 SYNM 0 genome.wustl.edu 37 15 99672605 99672605 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 99672605 99672605 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.4037 p.G1346D 0.006 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 164 0 0 79 45 36.2903 MPG 0 genome.wustl.edu 37 16 135493 135493 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 135493 135493 C A SNP MPG ENST00000219431 human ensembl 74_37 +1 known missense c.614 p.A205D 0.004 pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 167 0 0 81 32 28.3186 MPG 0 genome.wustl.edu 37 16 135720 135720 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 135720 135720 G T SNP MPG ENST00000219431 human ensembl 74_37 +1 known missense c.841 p.G281C 1.000 pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 36 0 0 25 9 26.4706 TMEM204 0 genome.wustl.edu 37 16 1584349 1584349 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 1584349 1584349 G A SNP TMEM204 ENST00000253934 human ensembl 74_37 +1 known missense c.73 p.A25T 0.998 NULL NULL - no_errors TMEM204 HGNC ENSG00000131634 122 0 0 85 27 24.1071 IFT140 0 genome.wustl.edu 37 16 1652483 1652483 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 1652483 1652483 G A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.257 p.T86M 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 101 0 0 92 7 7.07071 MAPK8IP3 0 genome.wustl.edu 37 16 1817877 1817877 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 1817877 1817877 G T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.3478 p.G1160C 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 233 0 0 123 52 29.7143 C16orf62 0 genome.wustl.edu 37 16 19567040 19567040 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 19567040 19567040 G A SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known missense c.256 p.V86M 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 58 0 0 47 6 11.3208 ANKS4B 0 genome.wustl.edu 37 16 21261872 21261872 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 21261872 21261872 C T SNP ANKS4B ENST00000311620 human ensembl 74_37 +1 known silent c.985 p.L329 0.021 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKS4B HGNC ENSG00000175311 63 0 0 44 26 37.1429 TSC2 0 genome.wustl.edu 37 16 2133710 2133710 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 2133710 2133710 A G SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.3898 p.M1300V 0.973 NULL pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 15 0 0 6 2 25 PKD1 0 genome.wustl.edu 37 16 2164260 2164260 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 2164260 2164260 G T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.2764 p.L922I 1.000 tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 52 0 0 20 14 41.1765 TRAF7 0 genome.wustl.edu 37 16 2225603 2225603 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 2225603 2225603 G A SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known missense c.1606 p.G536S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 111 0 0 71 8 10.1266 CACNG3 0 genome.wustl.edu 37 16 24372865 24372865 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 24372865 24372865 A C SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known missense c.629 p.K210T 0.992 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 204 0 0 162 31 16.0622 ZKSCAN2 0 genome.wustl.edu 37 16 25251408 25251408 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 25251408 25251408 C T SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known missense c.2633 p.R878Q 0.607 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 123 0 0 80 46 36.5079 ATXN2L 0 genome.wustl.edu 37 16 28837682 28837682 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 28837682 28837682 G A SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.587 p.R196Q 1.000 superfamily_LSM_dom pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 161 0 0 101 44 30.3448 NFATC2IP 0 genome.wustl.edu 37 16 28970422 28970422 + Splice_Site SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 28970422 28970422 G C SNP NFATC2IP ENST00000320805 human ensembl 74_37 +1 known splice_site c.1101+1 e7+1 0.976 - - - no_errors NFATC2IP HGNC ENSG00000176953 65 0 0 51 13 20.3125 PRSS22 0 genome.wustl.edu 37 16 2905627 2905627 + Silent SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 2905627 2905627 G C SNP PRSS22 ENST00000161006 human ensembl 74_37 -1 known silent c.507 p.L169 0.993 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 178 0 0 101 38 27.3381 PAGR1 0 genome.wustl.edu 37 16 29828286 29828286 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 29828286 29828286 G T SNP PAGR1 ENST00000609618 human ensembl 74_37 +1 known missense c.440 p.R147I 1.000 NULL NULL - no_errors PAGR1 Uniprot_gn ENSG00000263136 10 0 0 6 4 40 ASPHD1 0 genome.wustl.edu 37 16 29913005 29913005 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 29913005 29913005 C T SNP ASPHD1 ENST00000308748 human ensembl 74_37 +1 known missense c.713 p.P238L 1.000 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 91 0 0 79 15 15.9574 TBX6 0 genome.wustl.edu 37 16 30097645 30097645 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 30097645 30097645 C T SNP TBX6 ENST00000279386 human ensembl 74_37 -1 known silent c.1212 p.A404 0.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX6 HGNC ENSG00000149922 60 0 0 32 12 27.2727 ZNF205 0 genome.wustl.edu 37 16 3170173 3170173 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 3170173 3170173 C T SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known silent c.1512 p.Y504 0.992 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 ZNF205 HGNC ENSG00000122386 119 0 0 75 11 12.7907 PDIA2 0 genome.wustl.edu 37 16 335661 335661 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 335661 335661 C A SNP PDIA2 ENST00000219406 human ensembl 74_37 +1 known silent c.1077 p.S359 0.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 78 0 0 48 21 30.4348 ANKS3 0 genome.wustl.edu 37 16 4751097 4751097 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 4751097 4751097 T G SNP ANKS3 ENST00000304283 human ensembl 74_37 -1 known missense c.1158 p.Q386H 0.998 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 330 1 0.302115 203 11 5.14019 ADCY7 0 genome.wustl.edu 37 16 50339707 50339707 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 50339707 50339707 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.1699 p.D567N 0.816 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 132 0 0 118 20 14.4928 NLRC5 0 genome.wustl.edu 37 16 57060176 57060176 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 57060176 57060176 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known nonsense c.1321 p.Q441* 0.996 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 156 0 0 85 20 19.0476 NLRC5 0 genome.wustl.edu 37 16 57060249 57060249 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 57060249 57060249 T C SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.1394 p.L465P 0.976 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 103 0 0 48 34 41.4634 MMP15 0 genome.wustl.edu 37 16 58077204 58077204 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 58077204 58077204 G T SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known missense c.1394 p.R465L 0.992 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP15 HGNC ENSG00000102996 13 0 0 11 2 15.3846 CNOT1 0 genome.wustl.edu 37 16 58557362 58557362 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 58557362 58557362 G T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.6829 p.P2277T 1.000 pfam_CCR4-Not_Not1_C pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 237 0 0 143 67 31.9048 CES2 0 genome.wustl.edu 37 16 66976054 66976054 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 66976054 66976054 G A SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.1376 p.G459E 0.023 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 86 0 0 33 16 32.6531 KIAA0895L 0 genome.wustl.edu 37 16 67214239 67214239 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 67214239 67214239 C T SNP KIAA0895L ENST00000290881 human ensembl 74_37 -1 known missense c.275 p.R92Q 0.000 NULL pfam_DUF1704 - no_errors KIAA0895L HGNC ENSG00000196123 49 0 0 28 17 37.7778 SLC9A5 0 genome.wustl.edu 37 16 67292327 67292327 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 67292327 67292327 G A SNP SLC9A5 ENST00000299798 human ensembl 74_37 +1 known missense c.1603 p.D535N 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A5 HGNC ENSG00000135740 92 0 0 89 13 12.7451 ST3GAL2 0 genome.wustl.edu 37 16 70422378 70422378 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 70422378 70422378 G T SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known missense c.605 p.P202H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 231 0 0 121 64 34.5946 KLHL36 0 genome.wustl.edu 37 16 84690684 84690684 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 84690684 84690684 G A SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.271 p.G91S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 85 0 0 54 21 28 SNAI3 0 genome.wustl.edu 37 16 88748098 88748098 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 88748098 88748098 C T SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known missense c.101 p.C34Y 0.029 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 51 0 0 47 12 20.339 ACSF3 0 genome.wustl.edu 37 16 89167698 89167698 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 89167698 89167698 T C SNP ACSF3 ENST00000317447 human ensembl 74_37 +1 known silent c.609 p.S203 0.434 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 32 0 0 20 7 25.9259 DNAH9 0 genome.wustl.edu 37 17 11607574 11607574 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 11607574 11607574 G T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.5206 p.A1736S 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 118 1 0.840336 102 48 32 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 148 1 0.671141 133 44 24.8588 ZSWIM7 0 genome.wustl.edu 37 17 15902817 15902817 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 15902817 15902817 G A SNP ZSWIM7 ENST00000460252 human ensembl 74_37 -1 known missense c.92 p.S31F 0.001 NULL NULL - no_errors ZSWIM7 HGNC ENSG00000214941 19 0 0 15 8 34.7826 RASD1 0 genome.wustl.edu 37 17 17399230 17399230 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 17399230 17399230 C A SNP RASD1 ENST00000225688 human ensembl 74_37 -1 known missense c.266 p.R89L 1.000 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,smart_Ran_GTPase,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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD1 HGNC ENSG00000108551 50 0 0 29 11 27.5 FLII 0 genome.wustl.edu 37 17 18154278 18154278 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 18154278 18154278 G A SNP FLII ENST00000327031 human ensembl 74_37 -1 known silent c.1650 p.G550 0.874 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 50 0 0 34 3 8.10811 FLII 0 genome.wustl.edu 37 17 18154776 18154776 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 18154776 18154776 G C SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.1399 p.R467G 0.001 NULL pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 109 0 0 54 35 39.3258 KCNJ12 0 genome.wustl.edu 37 17 21318850 21318850 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 21318850 21318850 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.196 p.R66C 1.000 pfam_K_chnl_inward-rec_Kir,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 99 0 0 68 7 9.33333 METTL16 0 genome.wustl.edu 37 17 2310297 2310297 + RNA SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 2310297 2310297 T C SNP METTL16 ENST00000571332 human ensembl 74_37 -1 putative rna NULL NULL 0.768 - - - no_errors METTL16 HGNC ENSG00000127804 44 0 0 34 20 37.037 LIG3 0 genome.wustl.edu 37 17 33329049 33329049 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 33329049 33329049 G A SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.2600 p.R867H 0.066 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 101 1 0.980392 44 19 30.1587 TRPV1 0 genome.wustl.edu 37 17 3494385 3494385 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 3494385 3494385 C T SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known silent c.477 p.L159 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 29 0 0 19 3 13.6364 SOCS7 0 genome.wustl.edu 37 17 36522218 36522218 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 36522218 36522218 G A SNP SOCS7 ENST00000577233 human ensembl 74_37 +1 known missense c.1109 p.S370N 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC ENSG00000174111 88 0 0 55 42 43.299 FKBP10 0 genome.wustl.edu 37 17 39974510 39974510 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 39974510 39974510 C T SNP FKBP10 ENST00000489591 human ensembl 74_37 +1 known missense c.415 p.R139W 0.844 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 104 0 0 52 24 31.5789 STAT3 0 genome.wustl.edu 37 17 40474420 40474420 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 40474420 40474420 C A SNP STAT3 ENST00000264657 human ensembl 74_37 -1 known missense c.1981 p.D661Y 1.000 pfam_SH2,pfscan_SH2 pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT3 HGNC ENSG00000168610 227 1 0.438596 140 72 33.9623 MPP2 0 genome.wustl.edu 37 17 41955297 41955297 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 41955297 41955297 C T SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.1609 p.G537R 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 110 0 0 68 23 25.2747 FMNL1 0 genome.wustl.edu 37 17 43322382 43322382 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 43322382 43322382 C T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.2635 p.L879 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 110 0 0 59 28 32.1839 GOSR2 0 genome.wustl.edu 37 17 45016026 45016026 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 45016026 45016026 G A SNP GOSR2 ENST00000439730 human ensembl 74_37 +1 known missense c.539 p.R180Q 1.000 NULL superfamily_t-SNARE - no_errors GOSR2 HGNC ENSG00000108433 472 0 0 315 132 29.5302 KPNB1 0 genome.wustl.edu 37 17 45754442 45754442 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 45754442 45754442 C A SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.2052 p.N684K 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 110 0 0 100 19 15.9664 SNX11 0 genome.wustl.edu 37 17 46189428 46189428 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 46189428 46189428 C T SNP SNX11 ENST00000359238 human ensembl 74_37 +1 known missense c.23 p.S8L 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 153 0 0 115 7 5.7377 HOXB3 0 genome.wustl.edu 37 17 46628177 46628177 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 46628177 46628177 G A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known missense c.815 p.T272M 0.954 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 213 0 0 160 25 13.5135 KIF1C 0 genome.wustl.edu 37 17 4905816 4905816 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 4905816 4905816 C T SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.487 p.R163W 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 433 0 0 242 137 36.1478 BCAS3 0 genome.wustl.edu 37 17 58980003 58980003 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 58980003 58980003 G A SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.761 p.R254H 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 247 0 0 173 94 35.206 MARCH10 0 genome.wustl.edu 37 17 60837269 60837269 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 60837269 60837269 T C SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known silent c.309 p.S103 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 185 0 0 111 67 37.6404 FTSJ3 0 genome.wustl.edu 37 17 61901290 61901290 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 61901290 61901290 C T SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1177 p.E393K 1.000 pfam_rRNA_MeTfrase_Spb1_DUF3381 pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 121 0 0 102 18 15 ICAM2 0 genome.wustl.edu 37 17 62081214 62081214 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 62081214 62081214 G T SNP ICAM2 ENST00000412356 human ensembl 74_37 -1 known missense c.439 p.L147I 0.976 prints_ICAM_VCAM_N pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM2 HGNC ENSG00000108622 115 0 0 66 15 18.5185 ERN1 0 genome.wustl.edu 37 17 62137923 62137923 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 62137923 62137923 G A SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known missense c.1112 p.A371V 0.997 NULL pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 159 0 0 92 50 35.2113 SOX9 0 genome.wustl.edu 37 17 70120258 70120258 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 70120258 70120258 C T SNP SOX9 ENST00000245479 human ensembl 74_37 +1 known silent c.1260 p.Y420 1.000 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 273 0 0 175 68 27.9835 ACAP1 0 genome.wustl.edu 37 17 7246726 7246726 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 7246726 7246726 C T SNP ACAP1 ENST00000158762 human ensembl 74_37 +1 known missense c.373 p.R125W 0.992 pfscan_PLipase_C_PInositol-sp_X_dom pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 175 0 0 99 52 34.4371 TNRC6C 0 genome.wustl.edu 37 17 76045711 76045711 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 76045711 76045711 A G SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.568 p.M190V 0.996 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 415 0 0 246 117 32.2314 USP36 0 genome.wustl.edu 37 17 76832231 76832231 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 76832231 76832231 C T SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.215 p.R72H 0.949 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 64 0 0 47 23 32.8571 CCDC40 0 genome.wustl.edu 37 17 78069228 78069228 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 78069228 78069228 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2999 p.R1000Q 0.017 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 95 0 0 37 16 30.1887 CARD14 0 genome.wustl.edu 37 17 78157813 78157813 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 78157813 78157813 C T SNP CARD14 ENST00000344227 human ensembl 74_37 +1 known missense c.451 p.R151W 0.957 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 20 0 0 2 5 71.4286 B3GNTL1 0 genome.wustl.edu 37 17 80919007 80919007 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 80919007 80919007 G A SNP B3GNTL1 ENST00000320865 human ensembl 74_37 -1 known silent c.651 p.G217 0.603 NULL pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC ENSG00000175711 32 0 0 13 4 23.5294 LOC644669 0 genome.wustl.edu 37 18 15323264 15323264 + RNA SNP T T A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 15323264 15323264 T A SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.110 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 11 0 0 10 3 23.0769 DSG1 0 genome.wustl.edu 37 18 28913591 28913591 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 28913591 28913591 C T SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known nonsense c.724 p.R242* 0.147 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 68 0 0 79 34 30.0885 SETBP1 0 genome.wustl.edu 37 18 42532846 42532846 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 42532846 42532846 T G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.3541 p.F1181V 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 101 0 0 106 23 17.8295 GRP 0 genome.wustl.edu 37 18 56892843 56892843 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 56892843 56892843 C T SNP GRP ENST00000256857 human ensembl 74_37 +1 known missense c.259 p.L87F 0.079 NULL pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 113 0 0 99 43 30.2817 CYB5A 0 genome.wustl.edu 37 18 71920841 71920841 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 71920841 71920841 C T SNP CYB5A ENST00000340533 human ensembl 74_37 -1 known missense c.383 p.R128H 0.959 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5A HGNC ENSG00000166347 44 0 0 41 6 12.766 MBP 0 genome.wustl.edu 37 18 74817183 74817183 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 74817183 74817183 G A SNP MBP ENST00000355994 human ensembl 74_37 -1 known missense c.35 p.A12V 0.000 NULL pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 178 0 0 118 48 28.9157 SALL3 0 genome.wustl.edu 37 18 76753543 76753543 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 76753543 76753543 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1552 p.V518M 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 22 0 0 18 9 33.3333 CTDP1 0 genome.wustl.edu 37 18 77475181 77475181 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 77475181 77475181 A C SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.1721 p.Q574P 1.000 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 38 0 0 8 4 33.3333 TMEM259 0 genome.wustl.edu 37 19 1010864 1010864 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 1010864 1010864 C T SNP TMEM259 ENST00000356663 human ensembl 74_37 -1 known missense c.1348 p.E450K 1.000 NULL pfam_Membralin - no_errors TMEM259 HGNC ENSG00000182087 21 0 0 17 11 39.2857 MAN2B1 0 genome.wustl.edu 37 19 12759146 12759146 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 12759146 12759146 G A SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.2507 p.A836V 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 66 0 0 37 13 26 RAD23A 0 genome.wustl.edu 37 19 13059913 13059913 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 13059913 13059913 G A SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.619 p.E207K 0.998 superfamily_UBA-like,tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 28 0 0 24 3 11.1111 RFX1 0 genome.wustl.edu 37 19 14074062 14074062 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 14074062 14074062 G A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known silent c.2596 p.L866 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 49 0 0 17 11 39.2857 CYP4F8 0 genome.wustl.edu 37 19 15726481 15726481 + RNA SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 15726481 15726481 G A SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CYP4F8 HGNC ENSG00000186526 55 0 0 40 23 36.5079 ANKLE1 0 genome.wustl.edu 37 19 17394228 17394228 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 17394228 17394228 G A SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known missense c.655 p.A219T 0.000 NULL pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 169 0 0 85 33 27.9661 KIAA1683 0 genome.wustl.edu 37 19 18376152 18376152 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 18376152 18376152 G A SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.2198 p.A733V 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 135 0 0 89 39 30.4688 C19orf60 0 genome.wustl.edu 37 19 18700331 18700331 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 18700331 18700331 C T SNP C19orf60 ENST00000358607 human ensembl 74_37 +1 known silent c.291 p.F97 0.996 NULL NULL - no_errors C19orf60 HGNC ENSG00000006015 13 0 0 5 4 44.4444 SUGP2 0 genome.wustl.edu 37 19 19115185 19115185 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 19115185 19115185 G A SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known silent c.2721 p.P907 0.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 37 0 0 30 19 38.7755 ARMC6 0 genome.wustl.edu 37 19 19166101 19166101 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 19166101 19166101 C A SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known missense c.1051 p.L351M 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 156 0 0 99 13 11.6071 THOP1 0 genome.wustl.edu 37 19 2810725 2810725 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 2810725 2810725 C T SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known missense c.1730 p.A577V 0.014 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 17 0 0 10 4 28.5714 ZNF555 0 genome.wustl.edu 37 19 2852714 2852714 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 2852714 2852714 G A SNP ZNF555 ENST00000334241 human ensembl 74_37 +1 known silent c.651 p.R217 0.001 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 ZNF555 HGNC ENSG00000186300 132 0 0 96 49 33.7931 ZNF556 0 genome.wustl.edu 37 19 2877633 2877633 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 2877633 2877633 C T SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known missense c.677 p.T226I 1.000 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 ZNF556 HGNC ENSG00000172000 100 0 0 74 23 23.7113 GNA11 0 genome.wustl.edu 37 19 3113410 3113410 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 3113410 3113410 T C SNP GNA11 ENST00000078429 human ensembl 74_37 +1 known missense c.404 p.L135P 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,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_Q,prints_Fungi_Gprotein_alpha - no_errors GNA11 HGNC ENSG00000088256 79 0 0 71 4 5.33333 RBM42 0 genome.wustl.edu 37 19 36124838 36124838 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 36124838 36124838 C T SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known silent c.934 p.L312 0.961 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 19 0 0 16 4 20 ZNF345 0 genome.wustl.edu 37 19 37368636 37368636 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 37368636 37368636 A G SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known missense c.904 p.T302A 0.082 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 129 0 0 74 40 35.0877 SAMD4B 0 genome.wustl.edu 37 19 39871247 39871247 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 39871247 39871247 C T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known missense c.1670 p.S557L 0.999 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 116 0 0 83 37 30.8333 PAF1 0 genome.wustl.edu 37 19 39879317 39879317 + Splice_Site SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 39879317 39879317 C T SNP PAF1 ENST00000221265 human ensembl 74_37 -1 known splice_site c.741-1 e10-1 1.000 - - - no_errors PAF1 HGNC ENSG00000006712 154 0 0 90 34 27.4194 LTBP4 0 genome.wustl.edu 37 19 41123127 41123127 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 41123127 41123127 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.3265 p.V1089M 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 31 0 0 20 9 31.0345 SNRPA 0 genome.wustl.edu 37 19 41268833 41268833 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 41268833 41268833 C T SNP SNRPA ENST00000243563 human ensembl 74_37 +1 known missense c.454 p.R152C 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPA HGNC ENSG00000077312 65 0 0 26 4 13.3333 AXL 0 genome.wustl.edu 37 19 41765752 41765752 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 41765752 41765752 C T SNP AXL ENST00000301178 human ensembl 74_37 +1 known silent c.2628 p.P876 0.389 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 67 0 0 46 17 26.9841 ATP1A3 0 genome.wustl.edu 37 19 42471440 42471440 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 42471440 42471440 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2974 p.D992N 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 80 0 0 36 27 42.8571 CIC 0 genome.wustl.edu 37 19 42795871 42795871 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 42795871 42795871 C T SNP CIC ENST00000575354 human ensembl 74_37 +1 known nonsense c.2860 p.Q954* 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 157 0 0 111 36 24.4898 KCNN4 0 genome.wustl.edu 37 19 44278410 44278410 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 44278410 44278410 C T SNP KCNN4 ENST00000262888 human ensembl 74_37 -1 known missense c.617 p.R206H 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 31 0 0 12 15 55.5556 ZNF227 0 genome.wustl.edu 37 19 44738862 44738862 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 44738862 44738862 G T SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known missense c.279 p.K93N 0.000 pfscan_Krueppel-associated_box 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 ZNF227 HGNC ENSG00000131115 93 0 0 45 25 35.7143 PPP1R13L 0 genome.wustl.edu 37 19 45885875 45885875 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 45885875 45885875 G A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known silent c.2358 p.T786 0.992 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 117 0 0 74 42 36.2069 HIF3A 0 genome.wustl.edu 37 19 46815457 46815457 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 46815457 46815457 C A SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known silent c.810 p.I270 0.997 pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 251 0 0 116 63 35.1955 TICAM1 0 genome.wustl.edu 37 19 4818338 4818338 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 4818338 4818338 C T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known missense c.52 p.A18T 0.006 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 75 0 0 44 30 40.5405 PRR12 0 genome.wustl.edu 37 19 50102838 50102838 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 50102838 50102838 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.3988 p.P1330S 0.134 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 12 0 0 10 3 23.0769 MYH14 0 genome.wustl.edu 37 19 50785086 50785086 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 50785086 50785086 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.4526 p.R1509H 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 46 0 0 16 6 27.2727 SHANK1 0 genome.wustl.edu 37 19 51219986 51219986 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 51219986 51219986 A G SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.191 p.V64A 0.974 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 91 0 0 94 12 11.3208 KLK13 0 genome.wustl.edu 37 19 51563198 51563198 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 51563198 51563198 T C SNP KLK13 ENST00000595793 human ensembl 74_37 -1 known missense c.392 p.Q131R 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK13 HGNC ENSG00000167759 145 0 0 102 10 8.92857 ZNF808 0 genome.wustl.edu 37 19 53057635 53057635 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 53057635 53057635 G A SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.1466 p.R489H 0.034 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 ZNF808 HGNC ENSG00000198482 152 0 0 84 43 33.8583 ZNF611 0 genome.wustl.edu 37 19 53209310 53209310 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 53209310 53209310 T C SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.998 p.D333G 0.079 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 ZNF611 HGNC ENSG00000213020 156 0 0 116 53 31.3609 NDUFA3 0 genome.wustl.edu 37 19 54609301 54609301 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 54609301 54609301 C T SNP NDUFA3 ENST00000419113 human ensembl 74_37 +1 known missense c.146 p.T49M 0.937 NULL NULL - no_errors NDUFA3 HGNC ENSG00000170906 219 0 0 100 40 28.5714 ZNF814 0 genome.wustl.edu 37 19 58384908 58384908 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 58384908 58384908 C T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1850 p.R617H 0.000 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 ZNF814 HGNC ENSG00000204514 92 0 0 72 20 21.7391 PSPN 0 genome.wustl.edu 37 19 6375771 6375771 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 6375771 6375771 G A SNP PSPN ENST00000245810 human ensembl 74_37 -1 known silent c.90 p.P30 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors PSPN HGNC ENSG00000125650 67 0 0 43 27 38.5714 CAMSAP3 0 genome.wustl.edu 37 19 7682705 7682705 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 7682705 7682705 C T SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.3593 p.A1198V 0.979 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 82 0 0 33 24 42.1053 XAB2 0 genome.wustl.edu 37 19 7693109 7693109 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 7693109 7693109 C T SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.127 p.E43K 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 106 0 0 56 29 34.1176 R3HDM4 0 genome.wustl.edu 37 19 902078 902078 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 902078 902078 A G SNP R3HDM4 ENST00000361574 human ensembl 74_37 -1 known missense c.124 p.S42P 0.014 NULL pfscan_R3H_ss-bd - no_errors R3HDM4 HGNC ENSG00000198858 175 0 0 117 36 23.5294 ZNF559 0 genome.wustl.edu 37 19 9452461 9452461 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 9452461 9452461 A G SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.334 p.T112A 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 ZNF559 HGNC ENSG00000188321 133 0 0 124 8 6.06061 ZNF559 0 genome.wustl.edu 37 19 9452553 9452553 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 9452553 9452553 C T SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known silent c.426 p.I142 0.005 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 ZNF559 HGNC ENSG00000188321 199 0 0 107 57 34.7561 ZNF561 0 genome.wustl.edu 37 19 9721783 9721783 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 9721783 9721783 G A SNP ZNF561 ENST00000302851 human ensembl 74_37 -1 known missense c.554 p.A185V 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 ZNF561 HGNC ENSG00000171469 62 0 0 58 26 30.9524 REV1 0 genome.wustl.edu 37 2 100022484 100022484 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 100022484 100022484 G A SNP REV1 ENST00000258428 human ensembl 74_37 -1 known missense c.2699 p.T900I 0.135 pirsf_REV1 pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N - no_errors REV1 HGNC ENSG00000135945 70 0 0 56 26 31.7073 TGFBRAP1 0 genome.wustl.edu 37 2 105883890 105883890 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 105883890 105883890 C T SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known missense c.2533 p.A845T 0.969 pfam_VPS39/TGF_beta_rcpt-assoc_2 pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 159 0 0 92 50 35.2113 EDAR 0 genome.wustl.edu 37 2 109527396 109527396 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 109527396 109527396 C T SNP EDAR ENST00000376651 human ensembl 74_37 -1 known missense c.662 p.G221D 0.000 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 70 0 0 42 19 31.1475 BUB1 0 genome.wustl.edu 37 2 111408256 111408256 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 111408256 111408256 C A SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.2070 p.E690D 0.005 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 27 0 0 36 14 28 IMP4 0 genome.wustl.edu 37 2 131102231 131102231 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 131102231 131102231 C T SNP IMP4 ENST00000259239 human ensembl 74_37 +1 known nonsense c.142 p.R48* 0.998 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors IMP4 HGNC ENSG00000136718 153 0 0 97 52 34.8993 AMER3 0 genome.wustl.edu 37 2 131521723 131521723 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 131521723 131521723 C T SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.2078 p.A693V 0.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 38 0 0 17 12 41.3793 LOC150776 0 genome.wustl.edu 37 2 132259072 132259072 + RNA SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 132259072 132259072 C T SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 37 0 0 19 6 24 THSD7B 0 genome.wustl.edu 37 2 138030222 138030222 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 138030222 138030222 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2386 p.P796S 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 12 0 0 26 6 18.75 KYNU 0 genome.wustl.edu 37 2 143742717 143742717 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 143742717 143742717 G A SNP KYNU ENST00000264170 human ensembl 74_37 +1 known nonsense c.794 p.W265* 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 70 0 0 133 59 30.7292 ACVR2A 0 genome.wustl.edu 37 2 148684747 148684747 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 148684747 148684747 G A SNP ACVR2A ENST00000241416 human ensembl 74_37 +1 known missense c.1446 p.M482I 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 22 0 0 53 25 32.0513 TNFAIP6 0 genome.wustl.edu 37 2 152235983 152235983 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 152235983 152235983 A C SNP TNFAIP6 ENST00000243347 human ensembl 74_37 +1 known missense c.770 p.K257T 1.000 NULL pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 160 0 0 81 44 35.2 GALNT13 0 genome.wustl.edu 37 2 155099258 155099258 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 155099258 155099258 C T SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.526 p.P176S 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 27 0 0 60 9 13.0435 SCN2A 0 genome.wustl.edu 37 2 166166916 166166916 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 166166916 166166916 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.781 p.V261M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 162 0 0 194 99 33.7884 XIRP2 0 genome.wustl.edu 37 2 168102105 168102105 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 168102105 168102105 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.4203 p.E1401D 0.976 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 43 0 0 78 19 19.5876 SP5 0 genome.wustl.edu 37 2 171572954 171572954 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 171572954 171572954 G A SNP SP5 ENST00000375281 human ensembl 74_37 +1 known silent c.237 p.A79 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 40 0 0 15 3 16.6667 HOXD12 0 genome.wustl.edu 37 2 176965452 176965452 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 176965452 176965452 C T SNP HOXD12 ENST00000406506 human ensembl 74_37 +1 known silent c.777 p.R259 0.760 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD12 HGNC ENSG00000170178 43 0 0 34 4 10.5263 RAD51AP2 0 genome.wustl.edu 37 2 17697946 17697946 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 17697946 17697946 T C SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known silent c.1737 p.L579 0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 12 0 0 4 3 42.8571 TTN 0 genome.wustl.edu 37 2 179427391 179427391 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 179427391 179427391 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.75764 p.T25255N 0.145 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 23 0 0 56 28 33.3333 NCKAP1 0 genome.wustl.edu 37 2 183792931 183792931 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 183792931 183792931 A G SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known silent c.3112 p.L1038 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 76 0 0 75 40 34.7826 ZNF804A 0 genome.wustl.edu 37 2 185802457 185802457 + Silent SNP T T A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 185802457 185802457 T A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known silent c.2334 p.S778 0.966 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 19 0 0 34 25 42.3729 TYW5 0 genome.wustl.edu 37 2 200800752 200800752 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 200800752 200800752 A G SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known missense c.593 p.L198P 0.834 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 122 0 0 82 48 36.9231 BZW1 0 genome.wustl.edu 37 2 201681935 201681935 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 201681935 201681935 G A SNP BZW1 ENST00000409600 human ensembl 74_37 +1 known missense c.509 p.S170N 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 92 0 0 66 34 34 ORC2 0 genome.wustl.edu 37 2 201784950 201784950 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 201784950 201784950 A G SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known silent c.1461 p.N487 0.979 pfam_ORC2 pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 81 0 0 48 25 34.2466 CDK15 0 genome.wustl.edu 37 2 202712142 202712142 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 202712142 202712142 A G SNP CDK15 ENST00000374598 human ensembl 74_37 +1 known missense c.890 p.Q297R 0.984 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 CDK15 HGNC ENSG00000138395 127 0 0 82 29 26.1261 BMPR2 0 genome.wustl.edu 37 2 203242245 203242245 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 203242245 203242245 G A SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known nonsense c.48 p.W16* 0.403 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 131 0 0 87 32 26.8908 BMPR2 0 genome.wustl.edu 37 2 203407105 203407105 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 203407105 203407105 C T SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known nonsense c.1348 p.Q450* 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,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 102 0 0 71 30 29.703 INO80D 0 genome.wustl.edu 37 2 206869417 206869417 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 206869417 206869417 G A SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.2759 p.T920M 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 49 0 0 23 17 42.5 CRYGC 0 genome.wustl.edu 37 2 208994242 208994242 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 208994242 208994242 G A SNP CRYGC ENST00000282141 human ensembl 74_37 -1 known missense c.175 p.R59W 0.966 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 183 1 0.543478 107 55 33.9506 ZNF142 0 genome.wustl.edu 37 2 219507069 219507069 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 219507069 219507069 C T SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known silent c.4170 p.R1390 0.998 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 132 0 0 81 40 33.0579 CCDC108 0 genome.wustl.edu 37 2 219892428 219892428 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 219892428 219892428 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.2155 p.P719S 1.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 219 0 0 116 56 32.5581 COL4A3 0 genome.wustl.edu 37 2 228118042 228118042 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 228118042 228118042 A G SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.676 p.K226E 0.485 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 131 0 0 160 72 31.0345 COL4A3 0 genome.wustl.edu 37 2 228141189 228141189 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 228141189 228141189 A G SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known silent c.2016 p.P672 0.998 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 72 0 0 30 14 31.8182 SP100 0 genome.wustl.edu 37 2 231328834 231328834 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 231328834 231328834 A G SNP SP100 ENST00000340126 human ensembl 74_37 +1 known silent c.1110 p.E370 0.004 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 42 0 0 79 5 5.95238 B3GNT7 0 genome.wustl.edu 37 2 232263248 232263248 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 232263248 232263248 G A SNP B3GNT7 ENST00000287590 human ensembl 74_37 +1 known missense c.818 p.R273Q 0.494 pfam_Glyco_trans_31,pfam_Fringe-like pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT7 HGNC ENSG00000156966 43 0 0 20 12 37.5 DIS3L2 0 genome.wustl.edu 37 2 233201245 233201245 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 233201245 233201245 G T SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.2563 p.A855S 0.971 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 47 0 0 25 13 34.2105 NEU2 0 genome.wustl.edu 37 2 233898990 233898990 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 233898990 233898990 G A SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known silent c.366 p.T122 0.005 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 108 0 0 41 10 19.6078 IQCA1 0 genome.wustl.edu 37 2 237272542 237272542 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 237272542 237272542 G A SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known silent c.1750 p.L584 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 162 0 0 118 52 30.5882 D2HGDH 0 genome.wustl.edu 37 2 242695175 242695175 + RNA SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 242695175 242695175 G A SNP D2HGDH ENST00000486953 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors D2HGDH HGNC ENSG00000180902 53 0 0 22 12 35.2941 FKBP1B 0 genome.wustl.edu 37 2 24285969 24285969 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 24285969 24285969 C A SNP FKBP1B ENST00000380986 human ensembl 74_37 +1 known silent c.234 p.T78 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP1B HGNC ENSG00000119782 68 0 0 50 15 23.0769 SLC5A6 0 genome.wustl.edu 37 2 27430423 27430423 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 27430423 27430423 G A SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known silent c.96 p.F32 0.004 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 101 0 0 46 23 33.3333 SNX17 0 genome.wustl.edu 37 2 27598769 27598769 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 27598769 27598769 C T SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known silent c.1035 p.R345 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 112 0 0 55 32 36.7816 C2orf16 0 genome.wustl.edu 37 2 27803556 27803556 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 27803556 27803556 C T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.4117 p.R1373W 0.304 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 106 0 0 78 44 36.0656 DHX57 0 genome.wustl.edu 37 2 39095410 39095410 + Silent SNP T T A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 39095410 39095410 T A SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known silent c.138 p.G46 0.340 NULL pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 86 0 0 90 8 8.16327 SPTBN1 0 genome.wustl.edu 37 2 54873365 54873365 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 54873365 54873365 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.4619 p.R1540H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 232 0 0 221 33 12.9921 SPTBN1 0 genome.wustl.edu 37 2 54880747 54880747 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 54880747 54880747 T G SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.5579 p.V1860G 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 107 0 0 74 42 36.2069 SLC1A4 0 genome.wustl.edu 37 2 65243635 65243635 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 65243635 65243635 A G SNP SLC1A4 ENST00000234256 human ensembl 74_37 +1 known missense c.862 p.I288V 0.168 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC ENSG00000115902 199 0 0 152 65 29.9539 SPRED2 0 genome.wustl.edu 37 2 65540704 65540704 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 65540704 65540704 G A SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known silent c.1188 p.P396 0.398 pfam_Sprouty pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 111 0 0 73 22 23.1579 DYSF 0 genome.wustl.edu 37 2 71825835 71825835 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 71825835 71825835 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.3755 p.P1252L 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 85 0 0 32 24 42.8571 SLC4A5 0 genome.wustl.edu 37 2 74513013 74513013 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 74513013 74513013 C T SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known silent c.288 p.E96 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 23 0 0 7 12 63.1579 CTNNA2 0 genome.wustl.edu 37 2 80646695 80646695 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 80646695 80646695 T C SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.1361 p.V454A 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 72 0 0 112 15 11.811 CTNNA2 0 genome.wustl.edu 37 2 80835350 80835350 + Silent SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 80835350 80835350 T G SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.2439 p.L813 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 41 0 0 85 47 35.6061 ELMOD3 0 genome.wustl.edu 37 2 85617547 85617547 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 85617547 85617547 T C SNP ELMOD3 ENST00000315658 human ensembl 74_37 +1 known missense c.1102 p.S368P 0.000 NULL pfam_Engulfment_cell_motility_ELMO - no_errors ELMOD3 HGNC ENSG00000115459 289 1 0.344828 147 80 35.2423 KRCC1 0 genome.wustl.edu 37 2 88327464 88327464 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 88327464 88327464 C T SNP KRCC1 ENST00000347055 human ensembl 74_37 -1 known missense c.619 p.V207I 0.045 NULL NULL - no_errors KRCC1 HGNC ENSG00000172086 212 0 0 188 71 27.4131 SEMA4C 0 genome.wustl.edu 37 2 97526833 97526833 + Missense_Mutation SNP C C G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 97526833 97526833 C G SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.2032 p.V678L 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 58 0 0 36 17 32.0755 ZAP70 0 genome.wustl.edu 37 2 98351851 98351851 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 98351851 98351851 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.1221 p.A407 0.159 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,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 283 0 0 195 30 13.3333 TMEM131 0 genome.wustl.edu 37 2 98392382 98392382 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 98392382 98392382 T C SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.4244 p.D1415G 0.987 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 44 0 0 35 19 35.1852 TASP1 0 genome.wustl.edu 37 20 13539704 13539704 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 13539704 13539704 A G SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known missense c.626 p.V209A 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 113 0 0 154 50 24.5098 TMC2 0 genome.wustl.edu 37 20 2621797 2621797 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 2621797 2621797 G A SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2521 p.A841T 0.974 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 247 0 0 142 63 30.7317 HM13 0 genome.wustl.edu 37 20 30155910 30155910 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 30155910 30155910 A G SNP HM13 ENST00000398174 human ensembl 74_37 +1 known missense c.1064 p.H355R 0.997 NULL pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors HM13 HGNC ENSG00000101294 45 0 0 22 13 37.1429 SLC4A11 0 genome.wustl.edu 37 20 3210181 3210181 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 3210181 3210181 T C SNP SLC4A11 ENST00000474451 human ensembl 74_37 -1 known missense c.1604 p.N535S 1.000 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr - no_errors SLC4A11 HGNC ENSG00000088836 70 0 0 51 7 12.069 CEP250 0 genome.wustl.edu 37 20 34057798 34057798 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 34057798 34057798 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.935 p.T312I 0.993 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 42 0 0 16 13 44.8276 SAMHD1 0 genome.wustl.edu 37 20 35539626 35539626 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 35539626 35539626 A G SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.1265 p.L422P 0.985 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 160 0 0 95 48 33.5664 KCNS1 0 genome.wustl.edu 37 20 43726532 43726532 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 43726532 43726532 G A SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known missense c.881 p.A294V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 17 0 0 8 11 57.8947 SDC4 0 genome.wustl.edu 37 20 43955989 43955989 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 43955989 43955989 C T SNP SDC4 ENST00000372733 human ensembl 74_37 -1 known missense c.512 p.R171H 1.000 pfam_Syndecan/Neurexin_dom,smart_Neurexin-like pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC4 HGNC ENSG00000124145 127 0 0 67 31 31.6327 ATP9A 0 genome.wustl.edu 37 20 50221365 50221365 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 50221365 50221365 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.2998 p.E1000K 1.000 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 ATP9A HGNC ENSG00000054793 37 0 0 21 6 22.2222 ATP9A 0 genome.wustl.edu 37 20 50238695 50238695 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 50238695 50238695 C A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.2033 p.G678V 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,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 ATP9A HGNC ENSG00000054793 177 0 0 110 57 34.1317 ZFP64 0 genome.wustl.edu 37 20 50769044 50769044 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 50769044 50769044 C T SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.1687 p.A563T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 72 0 0 60 5 7.69231 GNAS 0 genome.wustl.edu 37 20 57428667 57428667 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 57428667 57428667 C A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.347 p.P116H 0.989 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 65 0 0 40 14 25.9259 TPTE 0 genome.wustl.edu 37 21 10996110 10996110 + RNA SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 21 10996110 10996110 T G SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TPTE HGNC ENSG00000166157 146 0 0 83 19 18.6275 NCAM2 0 genome.wustl.edu 37 21 22910227 22910227 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 21 22910227 22910227 T C SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known silent c.2463 p.I821 0.997 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 45 0 0 51 5 8.92857 SUSD2 0 genome.wustl.edu 37 22 24583244 24583244 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 24583244 24583244 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1717 p.V573M 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 58 0 0 43 4 8.51064 POM121L9P 0 genome.wustl.edu 37 22 24659741 24659741 + RNA SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 24659741 24659741 G A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 27 0 0 24 4 14.2857 MN1 0 genome.wustl.edu 37 22 28196402 28196402 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 28196402 28196402 G C SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.130 p.P44A 0.994 NULL NULL - no_errors MN1 HGNC ENSG00000169184 164 1 0.606061 92 38 29.2308 ZNRF3 0 genome.wustl.edu 37 22 29446744 29446744 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 29446744 29446744 C T SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known nonsense c.2575 p.R859* 0.001 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 24 0 0 13 9 40.9091 ASCC2 0 genome.wustl.edu 37 22 30221652 30221652 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 30221652 30221652 C T SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known missense c.199 p.D67N 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 212 0 0 89 54 37.7622 GALR3 0 genome.wustl.edu 37 22 38220959 38220959 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 38220959 38220959 G A SNP GALR3 ENST00000249041 human ensembl 74_37 +1 known missense c.589 p.V197M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt,prints_GPCR_Rhodpsn,prints_Galnin_3_rcpt - no_errors GALR3 HGNC ENSG00000128310 9 0 0 1 5 83.3333 ZC3H7B 0 genome.wustl.edu 37 22 41735150 41735150 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 41735150 41735150 C T SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.771 p.D257 0.756 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 185 1 0.537634 87 51 36.9565 SMC1B 0 genome.wustl.edu 37 22 45809402 45809402 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 45809402 45809402 C T SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.47 p.R16Q 0.999 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 25 0 0 22 5 18.5185 GRAMD4 0 genome.wustl.edu 37 22 47057337 47057337 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 47057337 47057337 C T SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.464 p.A155V 0.987 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 98 0 0 63 8 11.2676 ZBED4 0 genome.wustl.edu 37 22 50280283 50280283 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 50280283 50280283 C T SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known silent c.2973 p.S991 0.999 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 30 0 0 19 5 20.8333 TUBGCP6 0 genome.wustl.edu 37 22 50656526 50656526 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 50656526 50656526 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.5189 p.A1730V 1.000 NULL pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 110 0 0 54 34 38.6364 TUBGCP6 0 genome.wustl.edu 37 22 50659815 50659815 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 50659815 50659815 C A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.2973 p.K991N 0.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 32 0 0 28 2 6.66667 FANCD2 0 genome.wustl.edu 37 3 10074520 10074520 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 10074520 10074520 C T SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known silent c.69 p.T23 0.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 133 0 0 93 18 16.2162 FANCD2 0 genome.wustl.edu 37 3 10108898 10108898 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 10108898 10108898 A G SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known silent c.2391 p.V797 0.998 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 48 0 0 35 4 10.2564 CEP97 0 genome.wustl.edu 37 3 101477203 101477203 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 101477203 101477203 C T SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.1753 p.R585C 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 124 0 0 102 33 24.4444 PVRL3 0 genome.wustl.edu 37 3 110837775 110837775 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 110837775 110837775 T C SNP PVRL3 ENST00000485303 human ensembl 74_37 +1 known missense c.775 p.Y259H 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 70 0 0 55 18 24.6575 ARHGAP31 0 genome.wustl.edu 37 3 119121096 119121096 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 119121096 119121096 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known silent c.1497 p.S499 0.604 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 174 0 0 102 35 25.5474 PTPLB 0 genome.wustl.edu 37 3 123286614 123286614 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 123286614 123286614 G A SNP PTPLB ENST00000383657 human ensembl 74_37 -1 known missense c.287 p.A96V 1.000 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA - no_errors PTPLB HGNC ENSG00000206527 63 0 0 43 16 27.1186 PLXND1 0 genome.wustl.edu 37 3 129284343 129284343 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 129284343 129284343 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.4361 p.G1454D 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 88 0 0 37 21 36.2069 PIK3R4 0 genome.wustl.edu 37 3 130447425 130447425 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 130447425 130447425 C T SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known silent c.1689 p.R563 0.937 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 100 0 0 68 23 25.2747 CPNE4 0 genome.wustl.edu 37 3 131624148 131624148 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 131624148 131624148 C T SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known missense c.194 p.C65Y 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE4 HGNC ENSG00000196353 46 0 0 153 18 10.5263 EPHB1 0 genome.wustl.edu 37 3 134851733 134851733 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 134851733 134851733 T G SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1139 p.V380G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 47 0 0 52 6 10.3448 SAMD7 0 genome.wustl.edu 37 3 169642908 169642908 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 169642908 169642908 C T SNP SAMD7 ENST00000335556 human ensembl 74_37 +1 known missense c.274 p.R92W 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 97 0 0 59 31 34.4444 NAALADL2 0 genome.wustl.edu 37 3 175189442 175189442 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 175189442 175189442 C A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.1549 p.L517I 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 20 0 0 25 16 39.0244 CCDC39 0 genome.wustl.edu 37 3 180365973 180365973 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 180365973 180365973 G C SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.1342 p.Q448E 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 38 0 0 21 7 25 KNG1 0 genome.wustl.edu 37 3 186449380 186449380 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 186449380 186449380 G A SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.719 p.R240Q 0.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 52 0 0 28 17 37.7778 LINC00969 0 genome.wustl.edu 37 3 195410688 195410688 + RNA SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 195410688 195410688 G A SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 38 0 0 25 4 13.7931 IQCG 0 genome.wustl.edu 37 3 197670673 197670673 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 197670673 197670673 G A SNP IQCG ENST00000265239 human ensembl 74_37 -1 known silent c.258 p.Y86 0.040 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 176 0 0 92 39 29.771 TGFBR2 0 genome.wustl.edu 37 3 30713390 30713390 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 30713390 30713390 A G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.790 p.T264A 1.000 pirsf_Transform_growth_fac-b_typ-2 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 61 0 0 57 32 35.9551 CMTM6 0 genome.wustl.edu 37 3 32529529 32529529 + Splice_Site SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 32529529 32529529 C A SNP CMTM6 ENST00000205636 human ensembl 74_37 -1 known splice_site c.316-1 e3-1 1.000 - - - no_errors CMTM6 HGNC ENSG00000091317 34 0 0 31 12 27.907 VILL 0 genome.wustl.edu 37 3 38035802 38035802 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 38035802 38035802 C T SNP VILL ENST00000283713 human ensembl 74_37 +1 known silent c.186 p.Y62 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 45 0 0 32 13 28.8889 TTC21A 0 genome.wustl.edu 37 3 39179046 39179046 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 39179046 39179046 C T SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.3544 p.R1182C 0.960 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 86 0 0 41 32 43.8356 MYRIP 0 genome.wustl.edu 37 3 40085751 40085751 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 40085751 40085751 C T SNP MYRIP ENST00000396217 human ensembl 74_37 +1 known missense c.191 p.A64V 1.000 NULL pfam_Myrip/Melanophilin - no_errors MYRIP HGNC ENSG00000170011 55 0 0 66 25 27.4725 RPL14 0 genome.wustl.edu 37 3 40500174 40500174 + Silent SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 40500174 40500174 C A SNP RPL14 ENST00000338970 human ensembl 74_37 +1 known silent c.147 p.A49 1.000 pfam_Ribosomal_L14 pfam_Ribosomal_L14 - no_errors RPL14 HGNC ENSG00000188846 62 0 0 45 16 26.2295 ULK4 0 genome.wustl.edu 37 3 41607536 41607536 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 41607536 41607536 A G SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.3206 p.M1069T 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 74 0 0 35 49 58.3333 CLEC3B 0 genome.wustl.edu 37 3 45077050 45077050 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 45077050 45077050 C T SNP CLEC3B ENST00000296130 human ensembl 74_37 +1 known silent c.243 p.C81 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC ENSG00000163815 69 0 0 55 9 14.0625 PRKAR2A 0 genome.wustl.edu 37 3 48789703 48789703 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 48789703 48789703 G A SNP PRKAR2A ENST00000265563 human ensembl 74_37 -1 known silent c.987 p.R329 0.987 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2A HGNC ENSG00000114302 126 0 0 49 27 35.5263 RHOA 0 genome.wustl.edu 37 3 49412898 49412898 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 49412898 49412898 T C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.125 p.Y42C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 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 RHOA HGNC ENSG00000067560 131 0 0 50 59 54.1284 SLC38A3 0 genome.wustl.edu 37 3 50253006 50253006 + RNA SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 50253006 50253006 G A SNP SLC38A3 ENST00000414604 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC38A3 HGNC ENSG00000188338 82 0 0 46 28 37.8378 DOCK3 0 genome.wustl.edu 37 3 51263118 51263118 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 51263118 51263118 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.1291 p.G431R 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 158 0 0 114 60 34.4828 DOCK3 0 genome.wustl.edu 37 3 51392352 51392352 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 51392352 51392352 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.4147 p.L1383 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 164 0 0 168 24 12.5 RBM15B 0 genome.wustl.edu 37 3 51430610 51430610 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 51430610 51430610 C T SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known missense c.1780 p.R594W 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 108 0 0 55 24 30.3797 STAB1 0 genome.wustl.edu 37 3 52544480 52544480 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 52544480 52544480 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.2744 p.G915D 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 42 0 0 26 14 35 CACNA2D3 0 genome.wustl.edu 37 3 54157605 54157605 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 54157605 54157605 C T SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.188 p.S63F 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 177 0 0 106 32 23.1884 FAM208A 0 genome.wustl.edu 37 3 56658620 56658620 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 56658620 56658620 G A SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.4187 p.A1396V 0.996 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 99 0 0 82 30 26.7857 ADAMTS9 0 genome.wustl.edu 37 3 64582637 64582637 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 64582637 64582637 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.4048 p.R1350W 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 59 0 0 59 30 33.7079 LRIG1 0 genome.wustl.edu 37 3 66431997 66431997 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 66431997 66431997 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.2676 p.C892 0.892 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 217 0 0 111 70 38.674 MINA 0 genome.wustl.edu 37 3 97677947 97677947 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 97677947 97677947 C T SNP MINA ENST00000333396 human ensembl 74_37 -1 known missense c.629 p.S210N 1.000 pfam_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 64 0 0 52 28 35 C4orf17 0 genome.wustl.edu 37 4 100451003 100451003 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 100451003 100451003 C A SNP C4orf17 ENST00000326581 human ensembl 74_37 +1 known missense c.434 p.P145H 0.003 NULL NULL - no_errors C4orf17 HGNC ENSG00000138813 64 0 0 78 25 24.2718 PPP3CA 0 genome.wustl.edu 37 4 101947132 101947132 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 101947132 101947132 G A SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known missense c.1456 p.R486C 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 154 0 0 138 74 34.9057 SEC24B 0 genome.wustl.edu 37 4 110437688 110437688 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 110437688 110437688 G A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.2018 p.R673H 1.000 superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 43 0 0 50 5 9.09091 ANKRD50 0 genome.wustl.edu 37 4 125591592 125591592 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 125591592 125591592 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.2840 p.R947Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 41 0 0 69 25 26.5957 FAT4 0 genome.wustl.edu 37 4 126328090 126328090 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 126328090 126328090 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5363 p.R1788H 0.954 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 59 0 0 126 57 31.1475 POU4F2 0 genome.wustl.edu 37 4 147561490 147561490 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 147561490 147561490 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.760 p.D254N 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 49 0 0 24 12 33.3333 MFAP3L 0 genome.wustl.edu 37 4 170912625 170912625 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 170912625 170912625 T C SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known silent c.1134 p.V378 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 129 0 0 108 49 31.2102 VEGFC 0 genome.wustl.edu 37 4 177608669 177608669 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 177608669 177608669 T G SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known missense c.817 p.T273P 0.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 34 0 0 27 5 15.625 SORBS2 0 genome.wustl.edu 37 4 186545527 186545527 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 186545527 186545527 T C SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known silent c.1044 p.S348 0.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 131 0 0 92 22 19.2982 SHISA3 0 genome.wustl.edu 37 4 42403032 42403032 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 42403032 42403032 C A SNP SHISA3 ENST00000319234 human ensembl 74_37 +1 known missense c.281 p.P94H 1.000 NULL NULL - no_errors SHISA3 HGNC ENSG00000178343 255 1 0.390625 212 21 9.01288 GABRG1 0 genome.wustl.edu 37 4 46099285 46099285 + Silent SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 46099285 46099285 T G SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known silent c.186 p.G62 0.999 superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 51 0 0 209 15 6.69643 RASL11B 0 genome.wustl.edu 37 4 53728803 53728803 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 53728803 53728803 C T SNP RASL11B ENST00000248706 human ensembl 74_37 +1 known silent c.129 p.G43 0.976 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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 RASL11B HGNC ENSG00000128045 40 0 0 26 12 31.5789 SRP72 0 genome.wustl.edu 37 4 57366808 57366808 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 57366808 57366808 G T SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known missense c.1785 p.K595N 1.000 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 102 0 0 86 13 13.1313 JAKMIP1 0 genome.wustl.edu 37 4 6086667 6086667 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 6086667 6086667 A G SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.860 p.V287A 1.000 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 367 0 0 203 73 26.4493 MFSD7 0 genome.wustl.edu 37 4 677115 677115 + Silent SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 677115 677115 G T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known silent c.1038 p.T346 0.913 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 127 0 0 97 16 14.1593 UBA6 0 genome.wustl.edu 37 4 68547904 68547904 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 68547904 68547904 T C SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known silent c.162 p.T54 0.999 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 50 0 0 61 28 31.4607 HNRNPDL 0 genome.wustl.edu 37 4 83349475 83349475 + Nonsense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 83349475 83349475 C A SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known nonsense c.568 p.G190* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 232 1 0.429185 102 55 35.0318 UNC5C 0 genome.wustl.edu 37 4 96163632 96163632 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 96163632 96163632 G A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known silent c.1056 p.C352 0.549 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 20 0 0 27 10 27.027 ROPN1L 0 genome.wustl.edu 37 5 10442330 10442330 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 10442330 10442330 G A SNP ROPN1L ENST00000274134 human ensembl 74_37 +1 known silent c.51 p.P17 0.226 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1L HGNC ENSG00000145491 107 0 0 85 5 5.55556 APC 0 genome.wustl.edu 37 5 112137021 112137021 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 112137021 112137021 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.775 p.R259W 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 41 0 0 40 7 14.8936 PDLIM4 0 genome.wustl.edu 37 5 131607852 131607852 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 131607852 131607852 C A SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known missense c.923 p.A308E 0.434 pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 109 0 0 51 32 38.5542 PHF15 0 genome.wustl.edu 37 5 133897939 133897939 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 133897939 133897939 C T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known missense c.734 p.T245M 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 186 0 0 100 34 25.3731 PHF15 0 genome.wustl.edu 37 5 133914284 133914284 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 133914284 133914284 G A SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known nonsense c.1650 p.W550* 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 189 0 0 117 39 25 SIL1 0 genome.wustl.edu 37 5 138282955 138282955 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 138282955 138282955 G A SNP SIL1 ENST00000265195 human ensembl 74_37 -1 known missense c.1237 p.R413C 0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 79 0 0 56 32 36.3636 PCDHAC1 0 genome.wustl.edu 37 5 140308103 140308103 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 140308103 140308103 C A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.1626 p.N542K 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 193 0 0 152 60 28.3019 PCDHB7 0 genome.wustl.edu 37 5 140554245 140554245 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 140554245 140554245 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1829 p.T610M 0.982 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 279 1 0.357143 217 20 8.43882 PCDHB7 0 genome.wustl.edu 37 5 140554319 140554319 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 140554319 140554319 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1903 p.A635T 0.492 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 331 0 0 222 29 11.5538 PCDHB16 0 genome.wustl.edu 37 5 140562469 140562469 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 140562469 140562469 A C SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.335 p.N112T 0.993 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 76 0 0 41 19 31.6667 DPYSL3 0 genome.wustl.edu 37 5 146775259 146775259 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 146775259 146775259 C A SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.1487 p.R496M 1.000 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 80 0 0 43 14 24.5614 PDGFRB 0 genome.wustl.edu 37 5 149501535 149501535 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 149501535 149501535 T C SNP PDGFRB ENST00000261799 human ensembl 74_37 -1 known missense c.2252 p.Y751C 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 88 0 0 79 5 5.95238 LPCAT1 0 genome.wustl.edu 37 5 1501591 1501591 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 1501591 1501591 G A SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.263 p.P88L 0.996 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 51 0 0 27 13 32.5 ZNF300P1 0 genome.wustl.edu 37 5 150310805 150310805 + RNA SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 150310805 150310805 G T SNP ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 0.875 - - - no_errors ZNF300P1 HGNC ENSG00000197083 31 0 0 24 6 20 MED7 0 genome.wustl.edu 37 5 156566145 156566145 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 156566145 156566145 G T SNP MED7 ENST00000286317 human ensembl 74_37 -1 known missense c.298 p.P100T 1.000 pfam_Mediatior_Med7 pfam_Mediatior_Med7 - no_errors MED7 HGNC ENSG00000155868 119 0 0 82 31 27.4336 GABRA6 0 genome.wustl.edu 37 5 161113276 161113276 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 161113276 161113276 T C SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.79 p.F27L 0.990 prints_GABBAa6_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 66 0 0 63 30 32.2581 MYO10 0 genome.wustl.edu 37 5 16694521 16694521 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 16694521 16694521 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known silent c.3759 p.S1253 0.904 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 269 1 0.37037 147 85 36.6379 FBLL1 0 genome.wustl.edu 37 5 167957475 167957475 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 167957475 167957475 C T SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative silent c.966 p.V322 0.984 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 25 0 0 4 4 50 DOCK2 0 genome.wustl.edu 37 5 169482374 169482374 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 169482374 169482374 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4279 p.P1427S 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 67 0 0 60 24 28.5714 FBXW11 0 genome.wustl.edu 37 5 171299942 171299942 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 171299942 171299942 C T SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known missense c.1211 p.R404Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 33 0 0 37 15 28.8462 DDX41 0 genome.wustl.edu 37 5 176939616 176939616 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 176939616 176939616 G A SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known missense c.1430 p.A477V 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 55 0 0 40 13 24.5283 ZNF354A 0 genome.wustl.edu 37 5 178152390 178152390 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 178152390 178152390 G A SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known silent c.243 p.G81 0.002 pfscan_Krueppel-associated_box 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 ZNF354A HGNC ENSG00000169131 288 0 0 83 74 47.1338 RICTOR 0 genome.wustl.edu 37 5 38945599 38945599 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 38945599 38945599 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.4699 p.H1567Y 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 35 0 0 74 31 29.5238 KIAA0947 0 genome.wustl.edu 37 5 5436579 5436579 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 5436579 5436579 A G SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.133 p.I45V 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 9 0 0 3 7 70 NLN 0 genome.wustl.edu 37 5 65081624 65081624 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 65081624 65081624 A G SNP NLN ENST00000380985 human ensembl 74_37 +1 known missense c.845 p.Q282R 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 58 0 0 69 26 27.3684 MAST4 0 genome.wustl.edu 37 5 66084576 66084576 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 66084576 66084576 G A SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.596 p.R199H 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 44 0 0 45 8 15.0943 MAP1B 0 genome.wustl.edu 37 5 71411594 71411594 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 71411594 71411594 G T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.254 p.R85L 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 80 0 0 67 27 28.7234 TMEM174 0 genome.wustl.edu 37 5 72469122 72469122 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 72469122 72469122 G A SNP TMEM174 ENST00000296776 human ensembl 74_37 +1 known missense c.52 p.V18I 0.195 NULL NULL - no_errors TMEM174 HGNC ENSG00000164325 253 1 0.393701 251 108 30.0836 VCAN 0 genome.wustl.edu 37 5 82816658 82816658 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 82816658 82816658 A C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2533 p.S845R 0.244 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 122 1 0.813008 112 55 32.9341 EDIL3 0 genome.wustl.edu 37 5 83356138 83356138 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 83356138 83356138 T C SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.1118 p.D373G 1.000 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_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 46 0 0 57 27 32.1429 EDIL3 0 genome.wustl.edu 37 5 83360536 83360536 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 83360536 83360536 A G SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.935 p.L312P 1.000 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_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 75 0 0 54 23 29.8701 GPR98 0 genome.wustl.edu 37 5 89938835 89938835 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 89938835 89938835 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.2530 p.A844S 0.001 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 87 0 0 172 19 9.94764 FAM81B 0 genome.wustl.edu 37 5 94731879 94731879 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 94731879 94731879 A T SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known missense c.293 p.K98M 1.000 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 35 0 0 34 20 37.037 TMEM14B 0 genome.wustl.edu 37 6 10751370 10751370 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 10751370 10751370 C T SNP TMEM14B ENST00000379542 human ensembl 74_37 +1 known silent c.105 p.S35 0.822 pfam_UPF0136_TM pfam_UPF0136_TM - no_errors TMEM14B HGNC ENSG00000137210 120 0 0 70 42 37.5 WASF1 0 genome.wustl.edu 37 6 110448716 110448716 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 110448716 110448716 G A SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known missense c.89 p.T30I 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 30 0 0 28 14 33.3333 NEDD9 0 genome.wustl.edu 37 6 11191046 11191046 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 11191046 11191046 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known silent c.1056 p.P352 0.000 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 150 0 0 99 56 36.129 HS3ST5 0 genome.wustl.edu 37 6 114378702 114378702 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 114378702 114378702 C T SNP HS3ST5 ENST00000312719 human ensembl 74_37 -1 known missense c.760 p.D254N 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 139 0 0 92 51 35.6643 TRMT11 0 genome.wustl.edu 37 6 126359854 126359854 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 126359854 126359854 C T SNP TRMT11 ENST00000334379 human ensembl 74_37 +1 known missense c.1264 p.R422W 0.996 pirsf_tRNA_mtfrase_TRM11 pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase - no_errors TRMT11 HGNC ENSG00000066651 103 0 0 131 71 35.1485 KIAA1244 0 genome.wustl.edu 37 6 138644821 138644821 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 138644821 138644821 A T SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.4780 p.T1594S 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 135 0 0 79 32 28.8288 ECT2L 0 genome.wustl.edu 37 6 139203986 139203986 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 139203986 139203986 T C SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known missense c.2006 p.V669A 0.963 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 62 0 0 51 26 33.7662 TXLNB 0 genome.wustl.edu 37 6 139564337 139564337 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 139564337 139564337 C T SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.1381 p.A461T 0.729 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 149 0 0 84 32 27.5862 UST 0 genome.wustl.edu 37 6 149068723 149068723 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 149068723 149068723 G A SNP UST ENST00000367463 human ensembl 74_37 +1 known missense c.157 p.A53T 1.000 NULL pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 15 0 0 10 6 37.5 SYNE1 0 genome.wustl.edu 37 6 152466684 152466684 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 152466684 152466684 A G SNP SYNE1 ENST00000423061 human ensembl 74_37 -1 known missense c.24770 p.M8257T 0.992 NULL 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 108 0 0 57 16 21.9178 ARID1B 0 genome.wustl.edu 37 6 157511330 157511330 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 157511330 157511330 G T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.3968 p.G1323V 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 106 0 0 81 10 10.989 SLC17A3 0 genome.wustl.edu 37 6 25850316 25850316 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 25850316 25850316 C A SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known missense c.1083 p.K361N 0.064 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 100 0 0 94 42 30.8824 SLC17A3 0 genome.wustl.edu 37 6 25855394 25855394 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 25855394 25855394 C T SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known nonsense c.690 p.W230* 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 SLC17A3 HGNC ENSG00000124564 24 0 0 20 9 31.0345 HLA-C 0 genome.wustl.edu 37 6 31239000 31239000 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 31239000 31239000 A G SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.469 p.W157R 0.999 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 107 0 0 76 11 12.6437 HLA-B 0 genome.wustl.edu 37 6 31324094 31324094 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 31324094 31324094 A G SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.469 p.W157R 0.976 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 35 0 0 24 16 40 SLC44A4 0 genome.wustl.edu 37 6 31833683 31833683 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 31833683 31833683 A G SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.1454 p.F485S 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 126 0 0 109 21 16.1538 NOTCH4 0 genome.wustl.edu 37 6 32169918 32169918 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 32169918 32169918 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.3690 p.H1230 0.990 pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 192 0 0 112 64 36.3636 COL11A2 0 genome.wustl.edu 37 6 33140867 33140867 + Silent SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 33140867 33140867 G T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.2760 p.P920 0.999 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 40 0 0 20 3 13.0435 COL11A2 0 genome.wustl.edu 37 6 33152008 33152008 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 33152008 33152008 C T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.1033 p.D345N 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 158 0 0 82 46 35.9375 ITPR3 0 genome.wustl.edu 37 6 33632704 33632704 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 33632704 33632704 T C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.1206 p.N402 0.332 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 52 0 0 32 17 34.6939 USP49 0 genome.wustl.edu 37 6 41766584 41766584 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 41766584 41766584 C A SNP USP49 ENST00000373009 human ensembl 74_37 -1 known missense c.1754 p.R585M 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 173 1 0.574713 108 44 28.9474 PPP2R5D 0 genome.wustl.edu 37 6 42974334 42974334 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 42974334 42974334 T C SNP PPP2R5D ENST00000485511 human ensembl 74_37 +1 known missense c.239 p.I80T 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5D HGNC ENSG00000112640 142 0 0 96 38 28.3582 CUL9 0 genome.wustl.edu 37 6 43182994 43182994 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 43182994 43182994 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.5866 p.P1956S 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 168 0 0 102 47 31.5436 TTBK1 0 genome.wustl.edu 37 6 43251219 43251219 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 43251219 43251219 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.2741 p.G914E 0.923 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 TTBK1 HGNC ENSG00000146216 84 0 0 37 26 41.2698 TJAP1 0 genome.wustl.edu 37 6 43473430 43473430 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 43473430 43473430 G T SNP TJAP1 ENST00000372445 human ensembl 74_37 +1 known missense c.1511 p.R504M 0.000 NULL NULL - no_errors TJAP1 HGNC ENSG00000137221 71 0 0 26 20 43.4783 TFAP2B 0 genome.wustl.edu 37 6 50807989 50807989 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 50807989 50807989 A C SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.1088 p.K363T 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 165 0 0 85 47 35.6061 CD109 0 genome.wustl.edu 37 6 74528179 74528179 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 74528179 74528179 C A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.3980 p.P1327H 0.205 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 21 0 0 46 21 31.3433 BMP6 0 genome.wustl.edu 37 6 7727739 7727739 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 7727739 7727739 G A SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.551 p.R184H 0.943 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 26 0 0 15 11 42.3077 TBX18 0 genome.wustl.edu 37 6 85446536 85446536 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 85446536 85446536 G A SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1691 p.T564M 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 120 0 0 94 53 36.0544 RNGTT 0 genome.wustl.edu 37 6 89650829 89650829 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 89650829 89650829 G T SNP RNGTT ENST00000369485 human ensembl 74_37 -1 known missense c.135 p.F45L 1.000 pirsf_mRNA_cap_enz_bifunc pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase - no_errors RNGTT HGNC ENSG00000111880 151 0 0 147 15 9.25926 CUX1 0 genome.wustl.edu 37 7 101892233 101892233 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 101892233 101892233 C A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.4462 p.R1488S 0.991 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 20 0 0 10 6 37.5 PPP1R3A 0 genome.wustl.edu 37 7 113519938 113519938 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 113519938 113519938 T C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known silent c.1209 p.Q403 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 84 0 0 192 70 26.7176 AHCYL2 0 genome.wustl.edu 37 7 129029550 129029550 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 129029550 129029550 G A SNP AHCYL2 ENST00000325006 human ensembl 74_37 +1 known missense c.695 p.C232Y 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 62 0 0 38 16 29.6296 SLC13A4 0 genome.wustl.edu 37 7 135384207 135384207 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 135384207 135384207 G A SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known silent c.801 p.C267 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 103 0 0 65 41 38.6792 ATP6V0A4 0 genome.wustl.edu 37 7 138394386 138394386 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 138394386 138394386 G A SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known silent c.2412 p.H804 0.701 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 459 1 0.217391 368 49 11.7506 BRAF 0 genome.wustl.edu 37 7 140500228 140500228 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 140500228 140500228 G A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known missense c.914 p.A305V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 121 1 0.819672 122 52 29.8851 CASP2 0 genome.wustl.edu 37 7 142997472 142997472 + Splice_Site SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 142997472 142997472 G T SNP CASP2 ENST00000493642 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors CASP2 HGNC ENSG00000106144 66 0 0 36 18 33.3333 KMT2C 0 genome.wustl.edu 37 7 151873581 151873581 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 151873581 151873581 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.8957 p.G2986D 0.940 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 81 0 0 46 24 34.2857 NCAPG2 0 genome.wustl.edu 37 7 158444986 158444986 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 158444986 158444986 C T SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.2933 p.R978Q 0.511 NULL pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 467 1 0.213675 352 38 9.74359 TAX1BP1 0 genome.wustl.edu 37 7 27868391 27868391 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 27868391 27868391 G A SNP TAX1BP1 ENST00000396319 human ensembl 74_37 +1 known silent c.2313 p.Q771 0.985 NULL pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 112 0 0 163 64 28.1938 RP9 0 genome.wustl.edu 37 7 33136933 33136933 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 33136933 33136933 C T SNP RP9 ENST00000297157 human ensembl 74_37 -1 known missense c.355 p.E119K 1.000 NULL NULL - no_errors RP9 HGNC ENSG00000164610 75 0 0 47 20 29.8507 IGFBP3 0 genome.wustl.edu 37 7 45957023 45957023 + Nonsense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 45957023 45957023 G T SNP IGFBP3 ENST00000381083 human ensembl 74_37 -1 known nonsense c.437 p.S146* 0.597 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1 - no_errors IGFBP3 HGNC ENSG00000146674 99 0 0 47 12 20.339 POM121L12 0 genome.wustl.edu 37 7 53104076 53104076 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 53104076 53104076 C T SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.712 p.P238S 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 85 0 0 53 14 20.8955 RNF216 0 genome.wustl.edu 37 7 5781027 5781027 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 5781027 5781027 C A SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.621 p.E207D 0.972 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 329 1 0.30303 222 107 32.5228 USP42 0 genome.wustl.edu 37 7 6180573 6180573 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 6180573 6180573 A G SNP USP42 ENST00000306177 human ensembl 74_37 +1 known silent c.753 p.S251 0.940 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 53 0 0 32 14 30.4348 ZNF679 0 genome.wustl.edu 37 7 63726383 63726383 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 63726383 63726383 A G SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known silent c.372 p.Q124 0.011 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 ZNF679 HGNC ENSG00000197123 18 0 0 39 3 7.14286 SNORA22 0 genome.wustl.edu 37 7 65220599 65220599 + RNA SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 65220599 65220599 A G SNP SNORA22 ENST00000383907 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA22 HGNC ENSG00000206634 239 0 0 232 29 11.1111 TBL2 0 genome.wustl.edu 37 7 72992829 72992829 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 72992829 72992829 C T SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known silent c.51 p.G17 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 9 0 0 16 3 15.7895 MIOS 0 genome.wustl.edu 37 7 7613797 7613797 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 7613797 7613797 G A SNP MIOS ENST00000340080 human ensembl 74_37 +1 known missense c.1363 p.G455R 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 83 0 0 62 39 38.6139 CACNA2D1 0 genome.wustl.edu 37 7 81588672 81588672 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 81588672 81588672 A G SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.3114 p.S1038 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 29 0 0 51 22 30.137 SEMA3D 0 genome.wustl.edu 37 7 84649614 84649614 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 84649614 84649614 C T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1438 p.V480I 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 24 0 0 47 26 35.6164 DLX5 0 genome.wustl.edu 37 7 96651523 96651523 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 96651523 96651523 C T SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.514 p.A172T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 260 0 0 154 23 12.9944 SMURF1 0 genome.wustl.edu 37 7 98655080 98655080 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 98655080 98655080 G A SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known silent c.298 p.L100 1.000 superfamily_C2_dom,smart_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 116 0 0 66 24 26.6667 SPDYE3 0 genome.wustl.edu 37 7 99917575 99917575 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 99917575 99917575 C T SNP SPDYE3 ENST00000332397 human ensembl 74_37 +1 known missense c.1612 p.H538Y 0.504 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 153 0 0 46 51 52.5773 TAF2 0 genome.wustl.edu 37 8 120844733 120844733 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 120844733 120844733 C T SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known silent c.72 p.R24 0.997 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 86 0 0 63 18 22.2222 ADCY8 0 genome.wustl.edu 37 8 132002705 132002705 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 132002705 132002705 T C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1044 p.Q348 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 138 0 0 164 60 26.7857 TG 0 genome.wustl.edu 37 8 133894712 133894712 + Splice_Site SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 133894712 133894712 A G SNP TG ENST00000220616 human ensembl 74_37 +1 known splice_site c.746-2 e7-2 1.000 - - - no_errors TG HGNC ENSG00000042832 451 0 0 250 119 32.2493 KCNK9 0 genome.wustl.edu 37 8 140715170 140715170 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 140715170 140715170 G A SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known silent c.66 p.G22 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 29 0 0 26 5 16.129 PLEC 0 genome.wustl.edu 37 8 144990831 144990831 + Silent SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 144990831 144990831 G C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.13569 p.R4523 0.982 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 67 0 0 27 17 38.6364 PLEC 0 genome.wustl.edu 37 8 145003686 145003686 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 145003686 145003686 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.3388 p.R1130W 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 50 0 0 25 11 30.5556 LRRC14 0 genome.wustl.edu 37 8 145746833 145746833 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 145746833 145746833 C T SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known nonsense c.1453 p.R485* 0.136 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 48 0 0 34 16 32 HR 0 genome.wustl.edu 37 8 21980053 21980053 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 21980053 21980053 A G SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.2074 p.C692R 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 35 0 0 29 6 17.1429 REEP4 0 genome.wustl.edu 37 8 21996021 21996021 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 21996021 21996021 C T SNP REEP4 ENST00000523293 human ensembl 74_37 -1 putative missense c.598 p.A200T 0.000 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 137 0 0 77 34 30.6306 RBPMS 0 genome.wustl.edu 37 8 30402104 30402104 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 30402104 30402104 C T SNP RBPMS ENST00000339877 human ensembl 74_37 +1 known missense c.491 p.P164L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC ENSG00000157110 212 0 0 162 88 35.2 PRKDC 0 genome.wustl.edu 37 8 48815306 48815306 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 48815306 48815306 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.3092 p.R1031Q 0.221 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 60 0 0 29 11 27.5 MOS 0 genome.wustl.edu 37 8 57026480 57026480 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 57026480 57026480 G A SNP MOS ENST00000311923 human ensembl 74_37 -1 known missense c.62 p.A21V 0.155 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 MOS HGNC ENSG00000172680 36 0 0 36 9 20 CYP7B1 0 genome.wustl.edu 37 8 65528338 65528338 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 65528338 65528338 A C SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.760 p.L254V 0.072 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 146 0 0 213 103 32.5949 MSC 0 genome.wustl.edu 37 8 72756294 72756294 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 72756294 72756294 C T SNP MSC ENST00000325509 human ensembl 74_37 -1 known silent c.120 p.S40 0.645 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 23 0 0 18 10 35.7143 SPAG11A 0 genome.wustl.edu 37 8 7718335 7718335 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 7718335 7718335 G A SNP SPAG11A ENST00000326625 human ensembl 74_37 +1 novel missense c.223 p.D75N 0.000 NULL pfam_Defensin_beta-typ - no_errors SPAG11A HGNC ENSG00000178287 21 0 0 16 10 38.4615 ZFHX4 0 genome.wustl.edu 37 8 77775680 77775680 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 77775680 77775680 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.9730 p.Q3244* 1.000 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 105 0 0 130 74 36.2745 DCAF4L2 0 genome.wustl.edu 37 8 88885305 88885305 + Missense_Mutation SNP A A C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 88885305 88885305 A C SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.895 p.L299V 0.959 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 101 0 0 77 7 8.33333 GDF6 0 genome.wustl.edu 37 8 97172784 97172784 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 97172784 97172784 C T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.137 p.R46H 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 217 0 0 137 75 35.3774 MTDH 0 genome.wustl.edu 37 8 98703359 98703359 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 98703359 98703359 A G SNP MTDH ENST00000336273 human ensembl 74_37 +1 known missense c.991 p.T331A 0.041 NULL NULL - no_errors MTDH HGNC ENSG00000147649 114 0 0 99 40 28.777 CORO2A 0 genome.wustl.edu 37 9 100892136 100892136 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 100892136 100892136 C T SNP CORO2A ENST00000343933 human ensembl 74_37 -1 known missense c.907 p.D303N 0.707 pfam_DUF1900,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO2A HGNC ENSG00000106789 156 0 0 95 36 27.4809 TBC1D2 0 genome.wustl.edu 37 9 101014129 101014129 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 101014129 101014129 G A SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known missense c.449 p.A150V 0.007 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 131 0 0 70 39 35.7798 ACTL7B 0 genome.wustl.edu 37 9 111617137 111617137 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 111617137 111617137 C T SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known silent c.1074 p.E358 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 122 0 0 56 37 39.7849 DFNB31 0 genome.wustl.edu 37 9 117168749 117168749 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 117168749 117168749 G A SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.2122 p.P708S 0.226 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 86 0 0 78 16 17.0213 PAPPA 0 genome.wustl.edu 37 9 118974189 118974189 + Nonsense_Mutation SNP C C G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 118974189 118974189 C G SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known nonsense c.1896 p.Y632* 1.000 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 205 0 0 270 115 29.8701 BRINP1 0 genome.wustl.edu 37 9 121929790 121929790 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 121929790 121929790 G A SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1858 p.R620C 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 187 0 0 127 62 32.8042 OR5C1 0 genome.wustl.edu 37 9 125552005 125552005 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 125552005 125552005 G A SNP OR5C1 ENST00000373680 human ensembl 74_37 +1 known missense c.794 p.R265H 0.683 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 132 0 0 73 45 38.1356 LMX1B 0 genome.wustl.edu 37 9 129377719 129377719 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 129377719 129377719 G T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.197 p.R66L 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 36 0 0 25 12 32.4324 LMX1B 0 genome.wustl.edu 37 9 129458217 129458217 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 129458217 129458217 G A SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.1019 p.S340N 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 69 0 0 40 22 35.4839 TOR2A 0 genome.wustl.edu 37 9 130495689 130495689 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 130495689 130495689 G A SNP TOR2A ENST00000373284 human ensembl 74_37 -1 known missense c.568 p.R190C 1.000 pirsf_Torsin_subgr,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B pirsf_Torsin_subgr,pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TOR2A HGNC ENSG00000160404 62 0 0 29 15 34.0909 MPDZ 0 genome.wustl.edu 37 9 13168535 13168535 + Silent SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 13168535 13168535 G T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.3084 p.G1028 0.936 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 115 0 0 186 74 28.4615 SH3GLB2 0 genome.wustl.edu 37 9 131771011 131771011 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 131771011 131771011 G A SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known silent c.1167 p.G389 0.997 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 66 0 0 39 20 33.8983 C9orf78 0 genome.wustl.edu 37 9 132591762 132591762 + Nonsense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 132591762 132591762 G A SNP C9orf78 ENST00000372447 human ensembl 74_37 -1 known nonsense c.601 p.Q201* 1.000 pfam_Hep_59 pfam_Hep_59 - no_errors C9orf78 HGNC ENSG00000136819 370 0 0 229 94 29.1022 TTF1 0 genome.wustl.edu 37 9 135277489 135277489 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 135277489 135277489 C T SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known silent c.720 p.S240 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 94 0 0 57 36 38.7097 COL5A1 0 genome.wustl.edu 37 9 137681048 137681048 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 137681048 137681048 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.2694 p.G898 0.839 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 49 0 0 26 9 25.7143 NOTCH1 0 genome.wustl.edu 37 9 139412368 139412368 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 139412368 139412368 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.1277 p.A426V 0.997 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 57 0 0 46 20 30.303 RABL6 0 genome.wustl.edu 37 9 139726289 139726289 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 139726289 139726289 G A SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.575 p.R192H 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 33 0 0 31 3 8.82353 FBXW5 0 genome.wustl.edu 37 9 139836005 139836005 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 139836005 139836005 G T SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known missense c.1228 p.L410M 0.999 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 40 0 0 23 15 39.4737 NELFB 0 genome.wustl.edu 37 9 140161524 140161524 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 140161524 140161524 C T SNP NELFB ENST00000343053 human ensembl 74_37 +1 known silent c.1224 p.P408 0.001 pfam_COBRA1 pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 131 0 0 60 34 36.1702 DPH7 0 genome.wustl.edu 37 9 140449886 140449886 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 140449886 140449886 G A SNP DPH7 ENST00000277540 human ensembl 74_37 -1 known silent c.1164 p.G388 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DPH7 HGNC ENSG00000148399 98 0 0 53 40 43.0108 CACNA1B 0 genome.wustl.edu 37 9 140772606 140772606 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 140772606 140772606 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.221 p.S74L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 29 0 0 22 4 15.3846 CNTLN 0 genome.wustl.edu 37 9 17332676 17332676 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 17332676 17332676 T C SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.1592 p.L531P 0.975 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 46 0 0 58 28 32.5581 UNC13B 0 genome.wustl.edu 37 9 35295726 35295726 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 35295726 35295726 G A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.560 p.R187Q 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,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 UNC13B HGNC ENSG00000198722 110 1 0.900901 74 40 35.0877 TESK1 0 genome.wustl.edu 37 9 35609504 35609504 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 35609504 35609504 G A SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known missense c.1646 p.R549Q 0.998 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 109 0 0 103 15 12.7119 ALDH1B1 0 genome.wustl.edu 37 9 38395794 38395794 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 38395794 38395794 G A SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known missense c.49 p.A17T 0.001 NULL pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 144 1 0.689655 83 38 31.405 AGTPBP1 0 genome.wustl.edu 37 9 88247586 88247586 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 9 88247586 88247586 C A SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.2042 p.G681V 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 43 0 0 52 21 28.7671 GPRASP2 0 genome.wustl.edu 37 X 101969939 101969939 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 101969939 101969939 G A SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.142 p.A48T 0.921 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 266 0 0 217 45 17.1756 NXF3 0 genome.wustl.edu 37 X 102335077 102335077 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 102335077 102335077 T C SNP NXF3 ENST00000395065 human ensembl 74_37 -1 known missense c.995 p.K332R 0.980 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 529 0 0 305 153 33.4061 TSC22D3 0 genome.wustl.edu 37 X 107018613 107018613 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 107018613 107018613 C T SNP TSC22D3 ENST00000315660 human ensembl 74_37 -1 known missense c.37 p.G13S 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 25 0 0 11 9 45 CXorf56 0 genome.wustl.edu 37 X 118699280 118699280 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 118699280 118699280 G C SNP CXorf56 ENST00000371594 human ensembl 74_37 -1 known missense c.39 p.D13E 1.000 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 160 0 0 79 38 32.4786 ATP1B4 0 genome.wustl.edu 37 X 119504684 119504684 + Missense_Mutation SNP G G T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 119504684 119504684 G T SNP ATP1B4 ENST00000218008 human ensembl 74_37 +1 known missense c.443 p.R148L 1.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B4 HGNC ENSG00000101892 425 1 0.234742 418 153 26.7951 DCAF12L1 0 genome.wustl.edu 37 X 125686358 125686358 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 125686358 125686358 G A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.234 p.Y78 0.019 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 104 0 0 81 41 33.6066 ACTRT1 0 genome.wustl.edu 37 X 127185759 127185759 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 127185759 127185759 C T SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.427 p.A143T 0.957 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 323 1 0.308642 313 111 26.1792 HS6ST2 0 genome.wustl.edu 37 X 132092270 132092270 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 132092270 132092270 C T SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known missense c.361 p.A121T 1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 20 0 0 6 6 50 MAGEC3 0 genome.wustl.edu 37 X 140984487 140984487 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 140984487 140984487 C T SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known nonsense c.49 p.Q17* 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 202 0 0 140 59 29.6482 SLITRK2 0 genome.wustl.edu 37 X 144904206 144904206 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 144904206 144904206 C T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.263 p.A88V 0.957 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 163 0 0 101 37 26.8116 AFF2 0 genome.wustl.edu 37 X 148037360 148037360 + Silent SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 148037360 148037360 A G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.1785 p.K595 0.999 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 211 0 0 196 80 28.9855 ATP2B3 0 genome.wustl.edu 37 X 152818542 152818542 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 152818542 152818542 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.1873 p.R625W 0.847 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 107 0 0 71 9 11.25 PNCK 0 genome.wustl.edu 37 X 152938109 152938109 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 152938109 152938109 C T SNP PNCK ENST00000447676 human ensembl 74_37 -1 known missense c.361 p.A121T 0.511 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 PNCK HGNC ENSG00000130822 124 0 0 91 14 13.3333 PLXNA3 0 genome.wustl.edu 37 X 153698447 153698447 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 153698447 153698447 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known silent c.4923 p.R1641 0.909 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 140 0 0 74 38 33.9286 F8 0 genome.wustl.edu 37 X 154128211 154128211 + Missense_Mutation SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 154128211 154128211 T C SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.6203 p.K2068R 0.997 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_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 44 0 0 93 13 12.2642 F8 0 genome.wustl.edu 37 X 154194366 154194366 + Missense_Mutation SNP T T A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 154194366 154194366 T A SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.1322 p.K441M 0.999 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 136 0 0 239 78 24.6057 FUNDC2 0 genome.wustl.edu 37 X 154261743 154261743 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 154261743 154261743 C T SNP FUNDC2 ENST00000369498 human ensembl 74_37 +1 known missense c.199 p.R67C 1.000 NULL pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 165 0 0 117 61 34.2697 PHKA2 0 genome.wustl.edu 37 X 18912406 18912406 + Silent SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 18912406 18912406 C T SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known silent c.3453 p.S1151 0.005 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 97 0 0 52 15 22.3881 KLHL34 0 genome.wustl.edu 37 X 21674117 21674117 + Missense_Mutation SNP A A T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 21674117 21674117 A T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known missense c.1790 p.L597H 0.848 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 25 0 0 17 10 37.037 POLA1 0 genome.wustl.edu 37 X 24745948 24745948 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 24745948 24745948 G A SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known silent c.1581 p.L527 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 99 0 0 74 45 37.8151 FAM47A 0 genome.wustl.edu 37 X 34148626 34148626 + Missense_Mutation SNP G G C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 34148626 34148626 G C SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1770 p.S590R 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 89 0 0 57 25 30.4878 CHDC2 0 genome.wustl.edu 37 X 36122657 36122657 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 36122657 36122657 T C SNP CHDC2 ENST00000313548 human ensembl 74_37 +1 known silent c.894 p.N298 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 116 0 0 160 73 31.3305 ZNF630 0 genome.wustl.edu 37 X 47919908 47919908 + Missense_Mutation SNP T T G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 47919908 47919908 T G SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known missense c.159 p.K53N 0.342 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF630 HGNC ENSG00000221994 114 0 0 67 29 30.2083 PQBP1 0 genome.wustl.edu 37 X 48759531 48759531 + Missense_Mutation SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 48759531 48759531 G A SNP PQBP1 ENST00000218224 human ensembl 74_37 +1 known missense c.314 p.R105Q 0.359 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PQBP1 HGNC ENSG00000102103 75 0 0 37 13 26 DGKK 0 genome.wustl.edu 37 X 50130606 50130606 + RNA SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 50130606 50130606 C A SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 30 0 0 43 17 28.3333 RIBC1 0 genome.wustl.edu 37 X 53457857 53457857 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 53457857 53457857 A G SNP RIBC1 ENST00000375327 human ensembl 74_37 +1 known missense c.1061 p.Q354R 1.000 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 122 0 0 76 32 29.6296 WNK3 0 genome.wustl.edu 37 X 54259313 54259313 + Missense_Mutation SNP C C A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 54259313 54259313 C A SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.4769 p.R1590I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 229 0 0 140 57 28.934 FGD1 0 genome.wustl.edu 37 X 54521707 54521707 + Silent SNP G G A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 54521707 54521707 G A SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known silent c.159 p.G53 0.123 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 19 0 0 16 4 20 ZXDB 0 genome.wustl.edu 37 X 57619559 57619559 + Nonsense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 57619559 57619559 C T SNP ZXDB ENST00000374888 human ensembl 74_37 +1 known nonsense c.1078 p.Q360* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 91 0 0 57 23 28.75 APOOL 0 genome.wustl.edu 37 X 84258931 84258931 + Missense_Mutation SNP A A G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 84258931 84258931 A G SNP APOOL ENST00000373173 human ensembl 74_37 +1 known missense c.13 p.R5G 0.315 NULL pfam_Apolipoprotein_O - no_errors APOOL HGNC ENSG00000155008 205 0 0 159 61 27.7273 DACH2 0 genome.wustl.edu 37 X 85404009 85404009 + Missense_Mutation SNP C C T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 85404009 85404009 C T SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.385 p.R129W 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 107 0 0 73 36 33.0275 KLHL4 0 genome.wustl.edu 37 X 86887421 86887421 + Silent SNP T T C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 86887421 86887421 T C SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known silent c.1536 p.H512 1.000 smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 41 0 0 47 26 35.6164 DBT 0 genome.wustl.edu 37 1 100696362 100696362 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 100696362 100696362 T - DEL DBT ENST00000370132 human ensembl 74_37 -1 known frame_shift_del c.360 p.K120fs 0.997 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors DBT HGNC ENSG00000137992 46 0 0 61 30 32.967 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 18 0 0 13 6 31.5789 VPS45 0 genome.wustl.edu 37 1 150044231 150044232 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 150044231 150044232 - G INS VPS45 ENST00000369130 human ensembl 74_37 +1 known splice_site_ins c.229-2_229-1 e3-1 1.000:1.000 - - - no_errors VPS45 HGNC ENSG00000136631 119 0 0 88 23 20.7207 SOAT1 0 genome.wustl.edu 37 1 179304653 179304653 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 179304653 179304653 T - DEL SOAT1 ENST00000367619 human ensembl 74_37 +1 known frame_shift_del c.190 p.F65fs 0.997 NULL pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 55 0 0 41 21 33.871 CEP350 0 genome.wustl.edu 37 1 180063485 180063486 + Frame_Shift_Ins INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 180063485 180063486 - A INS CEP350 ENST00000367607 human ensembl 74_37 +1 known frame_shift_ins c.8245_8246 p.I2751fs 0.267:0.263 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 35 0 0 20 14 41.1765 EIF4G3 0 genome.wustl.edu 37 1 21268825 21268826 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 21268825 21268826 - G INS EIF4G3 ENST00000374937 human ensembl 74_37 -1 known splice_site_ins c.674-3_674-2 e8-2 1.000:0.938 - - - no_errors EIF4G3 HGNC ENSG00000075151 111 0 0 129 29 18.3544 EIF4G3 0 genome.wustl.edu 37 1 21306905 21306905 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 21306905 21306905 G - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.268 p.Q90fs 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 81 0 0 46 10 17.8571 KIAA1804 0 genome.wustl.edu 37 1 233511655 233511655 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 233511655 233511655 T - DEL KIAA1804 ENST00000366622 human ensembl 74_37 +1 known frame_shift_del c.7 p.L4fs 0.079 NULL NULL - no_errors MLK4 Uniprot_gn ENSG00000143674 80 0 0 49 21 30 HEATR1 0 genome.wustl.edu 37 1 236721620 236721622 + In_Frame_Del DEL CTC CTC - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 236721620 236721622 CTC - DEL HEATR1 ENST00000366582 human ensembl 74_37 -1 known in_frame_del c.5121_5119 p.E1707in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 190 0 0 163 14 7.9096 ARID1A 0 genome.wustl.edu 37 1 27088682 27088682 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 27088682 27088682 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.2291 p.Q766fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 213 0 0 109 40 26.8456 GJB3 0 genome.wustl.edu 37 1 35250494 35250494 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 35250494 35250494 G - DEL GJB3 ENST00000373362 human ensembl 74_37 +1 known frame_shift_del c.131 p.D46fs 1.000 pfam_Connexin_N,smart_Connexin_N pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 63 0 0 54 18 25 MYCL 0 genome.wustl.edu 37 1 40366987 40366987 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 40366987 40366987 G - DEL MYCL ENST00000372816 human ensembl 74_37 -1 known frame_shift_del c.120 p.T41fs 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 24 0 0 15 6 28.5714 WDR78 0 genome.wustl.edu 37 1 67390426 67390426 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 67390426 67390426 T - DEL WDR78 ENST00000371026 human ensembl 74_37 -1 known frame_shift_del c.89 p.K30fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 213 0 0 180 14 7.21649 ZZZ3 0 genome.wustl.edu 37 1 78041802 78041804 + In_Frame_Del DEL TCA TCA - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 78041802 78041804 TCA - DEL ZZZ3 ENST00000370801 human ensembl 74_37 -1 known in_frame_del c.2282_2280 p.D761in_frame_del 1.000:1.000:1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 161 0 0 172 20 10.4167 F3 0 genome.wustl.edu 37 1 94998700 94998700 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 94998700 94998700 A - DEL F3 ENST00000334047 human ensembl 74_37 -1 known frame_shift_del c.537 p.F179fs 0.978 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor - no_errors F3 HGNC ENSG00000117525 122 0 0 97 7 6.73077 LZIC 0 genome.wustl.edu 37 1 9990460 9990460 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 1 9990460 9990460 T - DEL LZIC ENST00000541052 human ensembl 74_37 -1 known frame_shift_del c.633 p.K211fs 1.000 pfam_ICAT pfam_ICAT,superfamily_ICAT - no_errors LZIC HGNC ENSG00000162441 609 0 0 456 55 10.7632 C10orf88 0 genome.wustl.edu 37 10 124711510 124711510 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 124711510 124711510 T - DEL C10orf88 ENST00000481909 human ensembl 74_37 -1 known frame_shift_del c.401 p.N134fs 0.704 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 42 0 0 26 8 23.5294 C10orf71 0 genome.wustl.edu 37 10 50530938 50530938 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 50530938 50530938 C - DEL C10orf71 ENST00000374144 human ensembl 74_37 +1 known frame_shift_del c.348 p.P118fs 0.998 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 190 0 0 190 19 9.09091 ANK3 0 genome.wustl.edu 37 10 61831290 61831290 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 61831290 61831290 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.9349 p.I3117fs 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 223 0 0 310 103 24.9395 ANK3 0 genome.wustl.edu 37 10 61994510 61994511 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 61994510 61994511 - T INS ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_ins c.833_832 p.R278fs 1.000:0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 33 0 0 32 6 15.7895 STAMBPL1 0 genome.wustl.edu 37 10 90682161 90682161 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 90682161 90682161 C - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1222 p.H408fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 36 0 0 64 17 20.9877 HTR7 0 genome.wustl.edu 37 10 92502287 92502288 + Splice_Site INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 10 92502287 92502288 - A INS HTR7 ENST00000336152 human ensembl 74_37 -1 known splice_site_ins c.1394-3_1394-2 e4-2 0.999:0.019 - - - no_errors HTR7 HGNC ENSG00000148680 23 0 0 42 6 12.5 DDX6 0 genome.wustl.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 118629613 118629614 - G INS DDX6 ENST00000264018 human ensembl 74_37 -1 known splice_site_ins c.865-3_865-2 e8-2 1.000:0.856 - - - no_errors DDX6 HGNC ENSG00000110367 192 0 0 172 49 22.1719 UPK2 0 genome.wustl.edu 37 11 118827661 118827661 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 118827661 118827661 C - DEL UPK2 ENST00000264031 human ensembl 74_37 +1 known frame_shift_del c.145 p.C51fs 0.973 pfam_Uroplakin_II,pirsf_Uroplakin_II pfam_Uroplakin_II,pirsf_Uroplakin_II - no_errors UPK2 HGNC ENSG00000110375 103 0 0 81 19 19 ROBO4 0 genome.wustl.edu 37 11 124756593 124756593 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 124756593 124756593 C - DEL ROBO4 ENST00000306534 human ensembl 74_37 -1 known frame_shift_del c.2561 p.G854fs 0.070 NULL 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 ROBO4 HGNC ENSG00000154133 65 0 0 37 14 27.451 NCAPD3 0 genome.wustl.edu 37 11 134048586 134048586 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 134048586 134048586 G - DEL NCAPD3 ENST00000534548 human ensembl 74_37 -1 known frame_shift_del c.2725 p.Q909fs 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 142 0 0 179 13 6.77083 MUC15 0 genome.wustl.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 26587427 26587427 T - DEL MUC15 ENST00000436318 human ensembl 74_37 -1 known frame_shift_del c.60 p.K20fs 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 34 0 0 59 7 10.6061 OR5T3 0 genome.wustl.edu 37 11 56019856 56019856 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 56019856 56019856 T - DEL OR5T3 ENST00000303059 human ensembl 74_37 +1 known frame_shift_del c.181 p.F62fs 0.236 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 108 0 0 84 23 21.4953 MS4A8 0 genome.wustl.edu 37 11 60476247 60476247 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 60476247 60476247 G - DEL MS4A8 ENST00000300226 human ensembl 74_37 +1 known frame_shift_del c.527 p.G177fs 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A8 HGNC ENSG00000166959 102 0 0 99 11 10 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 131 0 0 79 26 24.7619 SLC22A6 0 genome.wustl.edu 37 11 62749334 62749334 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 62749334 62749334 A - DEL SLC22A6 ENST00000377871 human ensembl 74_37 -1 known frame_shift_del c.777 p.F259fs 0.986 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 SLC22A6 HGNC ENSG00000197901 36 0 0 24 7 22.5806 YIF1A 0 genome.wustl.edu 37 11 66052322 66052323 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 66052322 66052323 - G INS YIF1A ENST00000471387 human ensembl 74_37 -1 putative frame_shift_ins c.328_327 p.I109fs 0.000:0.002 NULL pfam_Hrf1 - no_errors YIF1A HGNC ENSG00000174851 87 0 0 62 6 8.82353 SYTL2 0 genome.wustl.edu 37 11 85435356 85435356 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 85435356 85435356 G - DEL SYTL2 ENST00000359152 human ensembl 74_37 -1 known frame_shift_del c.3716 p.P1239fs 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 148 0 0 149 46 23.5897 DENND5A 0 genome.wustl.edu 37 11 9167317 9167317 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 11 9167317 9167317 C - DEL DENND5A ENST00000328194 human ensembl 74_37 -1 known frame_shift_del c.2903 p.G968fs 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 533 0 0 434 133 23.4568 APPL2 0 genome.wustl.edu 37 12 105589059 105589059 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 105589059 105589059 T - DEL APPL2 ENST00000551662 human ensembl 74_37 -1 known frame_shift_del c.1239 p.K413fs 0.836 NULL pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 81 0 0 43 19 30.6452 SDSL 0 genome.wustl.edu 37 12 113867031 113867032 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 113867031 113867032 - C INS SDSL ENST00000345635 human ensembl 74_37 +1 known frame_shift_ins c.281_282 p.E96fs 0.998:0.699 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDSL HGNC ENSG00000139410 140 0 0 112 10 8.19672 FBXO21 0 genome.wustl.edu 37 12 117615412 117615412 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 117615412 117615412 T - DEL FBXO21 ENST00000330622 human ensembl 74_37 -1 known frame_shift_del c.505 p.I169fs 1.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 130 0 0 103 29 21.9697 HNF1A 0 genome.wustl.edu 37 12 121432115 121432115 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 121432115 121432115 G - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.862 p.P291fs 0.964 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 21 0 0 13 3 18.75 SBNO1 0 genome.wustl.edu 37 12 123794282 123794283 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 123794282 123794283 - T INS SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_ins c.3417_3416 p.N1139fs 1.000:1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 199 0 0 133 64 32.4873 ULK1 0 genome.wustl.edu 37 12 132402066 132402066 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 132402066 132402066 C - DEL ULK1 ENST00000321867 human ensembl 74_37 +1 known frame_shift_del c.2293 p.Q767fs 0.683 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 29 0 0 14 16 53.3333 LARP4 0 genome.wustl.edu 37 12 50848191 50848191 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 50848191 50848191 A - DEL LARP4 ENST00000429001 human ensembl 74_37 +1 known frame_shift_del c.1130 p.N379fs 0.996 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 83 0 0 78 25 24.2718 ITGA7 0 genome.wustl.edu 37 12 56078934 56078934 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 56078934 56078934 G - DEL ITGA7 ENST00000555728 human ensembl 74_37 -1 known frame_shift_del c.3454 p.R1152fs 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 63 0 0 45 18 28.5714 RBMS2 0 genome.wustl.edu 37 12 56915862 56915864 + In_Frame_Del DEL AAC AAC - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 56915862 56915864 AAC - DEL RBMS2 ENST00000262031 human ensembl 74_37 +1 known in_frame_del c.55_57 p.N20in_frame_del 1.000:1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMS2 HGNC ENSG00000076067 205 0 0 159 33 17.1875 MYO1A 0 genome.wustl.edu 37 12 57440668 57440668 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 57440668 57440668 G - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.520 p.L174fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 74 0 0 78 21 21.2121 R3HDM2 0 genome.wustl.edu 37 12 57652675 57652675 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 57652675 57652675 G - DEL R3HDM2 ENST00000347140 human ensembl 74_37 -1 known frame_shift_del c.2257 p.Q753fs 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 183 0 0 151 32 17.4863 GLIPR1L2 0 genome.wustl.edu 37 12 75804255 75804255 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 75804255 75804255 A - DEL GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known frame_shift_del c.276 p.K94fs 0.726 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 52 0 0 108 32 22.8571 FAM86FP 0 genome.wustl.edu 37 12 8391319 8391320 + RNA INS - - CA TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 8391319 8391320 - CA INS FAM86FP ENST00000427893 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors FAM86FP HGNC ENSG00000164845 83 0 0 71 13 15.4762 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 89 0 0 177 54 23.3766 TMEM255B 0 genome.wustl.edu 37 13 114514859 114514859 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 114514859 114514859 C - DEL TMEM255B ENST00000375353 human ensembl 74_37 +1 known frame_shift_del c.964 p.Y324fs 0.994 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 376 0 0 237 49 17.1329 IFT88 0 genome.wustl.edu 37 13 21205180 21205180 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 21205180 21205180 A - DEL IFT88 ENST00000319980 human ensembl 74_37 +1 known frame_shift_del c.1352 p.K453fs 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 51 0 0 67 7 9.45946 AKAP11 0 genome.wustl.edu 37 13 42874486 42874486 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 42874486 42874486 A - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.1604 p.N537fs 0.089 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 35 0 0 35 20 36.3636 DIS3 0 genome.wustl.edu 37 13 73337684 73337684 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 73337684 73337684 T - DEL DIS3 ENST00000377767 human ensembl 74_37 -1 known frame_shift_del c.2032 p.I678fs 1.000 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 109 0 0 74 33 30.8411 SLAIN1 0 genome.wustl.edu 37 13 78320722 78320722 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 13 78320722 78320722 A - DEL SLAIN1 ENST00000466548 human ensembl 74_37 +1 known frame_shift_del c.924 p.312fs 0.940 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 47 0 0 119 12 9.16031 INF2 0 genome.wustl.edu 37 14 105174185 105174185 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 105174185 105174185 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1581 p.V530fs 0.011 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 21 0 0 16 7 30.4348 AHNAK2 0 genome.wustl.edu 37 14 105416562 105416562 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 105416562 105416562 G - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.5226 p.K1743fs 0.857 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 329 0 0 269 19 6.59722 MYH6 0 genome.wustl.edu 37 14 23874468 23874470 + In_Frame_Del DEL AGA AGA - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 23874468 23874470 AGA - DEL MYH6 ENST00000356287 human ensembl 74_37 -1 known in_frame_del c.466_464 p.F155in_frame_del 1.000:1.000:1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 255 0 0 137 25 15.4321 ARHGAP5 0 genome.wustl.edu 37 14 32562346 32562346 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 32562346 32562346 A - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2471 p.R826fs 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 90 0 0 136 18 11.6883 CATSPERB 0 genome.wustl.edu 37 14 92058236 92058236 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 14 92058236 92058236 T - DEL CATSPERB ENST00000256343 human ensembl 74_37 -1 known frame_shift_del c.2820 p.V941fs 0.980 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 205 0 0 138 48 25.8065 MGA 0 genome.wustl.edu 37 15 42000020 42000020 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 42000020 42000020 T - DEL MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_del c.2283 p.W763fs 0.984 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 61 0 0 54 5 8.47458 MGA 0 genome.wustl.edu 37 15 42054515 42054516 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 42054515 42054516 - G INS MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_ins c.7699_7700 p.K2569fs 0.981:0.989 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 135 0 0 120 21 14.8936 PRTG 0 genome.wustl.edu 37 15 55912892 55912892 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 55912892 55912892 A - DEL PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_del c.3167 p.F1056fs 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 99 0 0 53 14 20.8955 RNF111 0 genome.wustl.edu 37 15 59376343 59376343 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 59376343 59376343 C - DEL RNF111 ENST00000434298 human ensembl 74_37 +1 known frame_shift_del c.2340 p.P782fs 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 67 0 0 88 12 12 THSD4 0 genome.wustl.edu 37 15 71704113 71704113 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 71704113 71704113 C - DEL THSD4 ENST00000261862 human ensembl 74_37 +1 known frame_shift_del c.1103 p.C370fs 0.984 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 142 0 0 117 9 7.14286 TM6SF1 0 genome.wustl.edu 37 15 83805312 83805312 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 83805312 83805312 T - DEL TM6SF1 ENST00000379386 human ensembl 74_37 +1 known frame_shift_del c.1010 p.L339fs 0.172 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 200 0 0 126 75 37.3134 MCTP2 0 genome.wustl.edu 37 15 94927344 94927344 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 15 94927344 94927344 T - DEL MCTP2 ENST00000357742 human ensembl 74_37 +1 known frame_shift_del c.1676 p.F560fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 16 0 0 28 6 17.6471 SLX4 0 genome.wustl.edu 37 16 3647657 3647657 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 3647657 3647657 G - DEL SLX4 ENST00000294008 human ensembl 74_37 -1 known frame_shift_del c.1406 p.P469fs 0.852 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 297 0 0 182 34 15.7407 CYLD 0 genome.wustl.edu 37 16 50826572 50826572 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 50826572 50826572 T - DEL CYLD ENST00000311559 human ensembl 74_37 +1 known frame_shift_del c.2306 p.P771fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 13 0 0 16 8 33.3333 RAB40C 0 genome.wustl.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 677579 677580 - C INS RAB40C ENST00000248139 human ensembl 74_37 +1 known frame_shift_ins c.803_804 p.Q271fs 1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 87 0 0 75 15 16.6667 ZC3H18 0 genome.wustl.edu 37 16 88666204 88666204 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 16 88666204 88666204 A - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.936 p.A315fs 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 339 0 0 213 73 25.5245 MPRIP 0 genome.wustl.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 17046886 17046886 C - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.1052 p.P353fs 0.999 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 36 0 0 21 9 30 KIAA0100 0 genome.wustl.edu 37 17 26966334 26966334 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 26966334 26966334 T - DEL KIAA0100 ENST00000528896 human ensembl 74_37 -1 known frame_shift_del c.1228 p.R410fs 0.999 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 199 0 0 108 38 26.0274 C17orf75 0 genome.wustl.edu 37 17 30665238 30665238 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 30665238 30665238 T - DEL C17orf75 ENST00000225805 human ensembl 74_37 -1 known frame_shift_del c.480 p.G161fs 1.000 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 249 0 0 175 65 27.0833 HOXB3 0 genome.wustl.edu 37 17 46627925 46627925 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 46627925 46627925 C - DEL HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_del c.1067 p.G356fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 39 0 0 42 6 12.5 ITGA3 0 genome.wustl.edu 37 17 48154742 48154743 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 48154742 48154743 - C INS ITGA3 ENST00000320031 human ensembl 74_37 +1 known frame_shift_ins c.2072_2071 p.G692fs 0.998:0.001 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 160 0 0 97 33 25.3846 CAMTA2 0 genome.wustl.edu 37 17 4875738 4875738 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 4875738 4875738 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.2666 p.P889fs 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 40 0 0 47 11 18.9655 ZFP3 0 genome.wustl.edu 37 17 4995923 4995923 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 4995923 4995923 G - DEL ZFP3 ENST00000318833 human ensembl 74_37 +1 known frame_shift_del c.1124 p.N377fs 0.677 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP3 HGNC ENSG00000180787 115 0 0 66 23 25.8427 TBX4 0 genome.wustl.edu 37 17 59560345 59560345 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 59560345 59560345 C - DEL TBX4 ENST00000393853 human ensembl 74_37 +1 known frame_shift_del c.1109 p.P372fs 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 63 0 0 44 14 24.1379 AXIN2 0 genome.wustl.edu 37 17 63532568 63532568 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 63532568 63532568 G - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known frame_shift_del c.2011 p.R671fs 1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 109 0 0 52 22 29.7297 CEP112 0 genome.wustl.edu 37 17 64059082 64059082 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 64059082 64059082 T - DEL CEP112 ENST00000392769 human ensembl 74_37 -1 known frame_shift_del c.1073 p.K358fs 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 63 0 0 48 25 34.2466 ABCA6 0 genome.wustl.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 67125767 67125767 A - DEL ABCA6 ENST00000284425 human ensembl 74_37 -1 known frame_shift_del c.917 p.L306fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 40 0 0 105 43 29.0541 YBX2 0 genome.wustl.edu 37 17 7193637 7193637 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 17 7193637 7193637 G - DEL YBX2 ENST00000007699 human ensembl 74_37 -1 known frame_shift_del c.677 p.P226fs 0.892 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 437 0 0 288 48 14.2857 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 36 0 0 26 7 21.2121 CCDC178 0 genome.wustl.edu 37 18 30873148 30873148 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 30873148 30873148 T - DEL CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_del c.1151 p.N384fs 0.004 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 56 0 0 50 17 25.3731 MOCOS 0 genome.wustl.edu 37 18 33848647 33848647 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 18 33848647 33848647 A - DEL MOCOS ENST00000261326 human ensembl 74_37 +1 known frame_shift_del c.2666 p.*889fs 0.029 NULL pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 126 0 0 88 43 32.8244 ZNF564 0 genome.wustl.edu 37 19 12637603 12637604 + Frame_Shift_Del DEL AT AT - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 12637603 12637604 AT - DEL ZNF564 ENST00000339282 human ensembl 74_37 -1 known frame_shift_del c.1319_1318 p.M440fs 0.010:0.018 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 ZNF564 HGNC ENSG00000249709 463 0 0 325 123 27.4554 CD22 0 genome.wustl.edu 37 19 35832248 35832249 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 35832248 35832249 - C INS CD22 ENST00000085219 human ensembl 74_37 +1 known frame_shift_ins c.1510_1511 p.R506fs 1.000:1.000 pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 61 0 0 35 15 30 LMTK3 0 genome.wustl.edu 37 19 49000740 49000740 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 49000740 49000740 C - DEL LMTK3 ENST00000270238 human ensembl 74_37 -1 known frame_shift_del c.3673 p.D1225fs 1.000 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 87 0 0 52 9 14.7541 ZSCAN5B 0 genome.wustl.edu 37 19 56701679 56701680 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 56701679 56701680 - G INS ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known frame_shift_ins c.1005_1004 p.G336fs 0.000:0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 258 0 0 158 52 24.7619 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 13 0 0 5 14 73.6842 GLI2 0 genome.wustl.edu 37 2 121708914 121708914 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 121708914 121708914 C - DEL GLI2 ENST00000361492 human ensembl 74_37 +1 known frame_shift_del c.350 p.H119fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 194 0 0 133 28 17.3913 IWS1 0 genome.wustl.edu 37 2 128238676 128238676 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 128238676 128238676 T - DEL IWS1 ENST00000295321 human ensembl 74_37 -1 known frame_shift_del c.2404 p.S802fs 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 179 0 0 150 16 9.63855 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 39 0 0 57 9 13.6364 DNAH7 0 genome.wustl.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 196788374 196788374 T - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.3770 p.N1257fs 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 68 0 0 73 29 28.4314 STK11IP 0 genome.wustl.edu 37 2 220478946 220478946 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 220478946 220478946 C - DEL STK11IP ENST00000456909 human ensembl 74_37 +1 novel frame_shift_del c.2780 p.Q929fs 1.000 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 101 0 0 64 13 16.8831 ATRAID 0 genome.wustl.edu 37 2 27436083 27436083 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 27436083 27436083 A - DEL ATRAID ENST00000380171 human ensembl 74_37 +1 known frame_shift_del c.303 p.V103fs 0.439 NULL pfscan_EG-like_dom - no_errors ATRAID HGNC ENSG00000138085 264 0 0 188 21 10.0478 TTC31 0 genome.wustl.edu 37 2 74718259 74718259 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 74718259 74718259 A - DEL TTC31 ENST00000442235 human ensembl 74_37 +1 known frame_shift_del c.119 p.K41fs 1.000 NULL NULL - no_errors TTC31 HGNC ENSG00000115282 173 0 0 128 56 30.4348 SEMA4C 0 genome.wustl.edu 37 2 97526589 97526589 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 97526589 97526589 G - DEL SEMA4C ENST00000305476 human ensembl 74_37 -1 known frame_shift_del c.2276 p.P759fs 0.998 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 144 0 0 85 27 24.1071 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 11 0 0 5 4 44.4444 LPIN3 0 genome.wustl.edu 37 20 39977298 39977299 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 39977298 39977299 - G INS LPIN3 ENST00000373257 human ensembl 74_37 +1 known frame_shift_ins c.328_329 p.L113fs 0.845:0.917 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 110 0 0 77 17 18.0851 SALL4 0 genome.wustl.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 50400983 50400983 C - DEL SALL4 ENST00000217086 human ensembl 74_37 -1 known frame_shift_del c.2983 p.V995fs 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 119 0 0 78 33 29.7297 TSHZ2 0 genome.wustl.edu 37 20 51872444 51872445 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 51872444 51872445 - C INS TSHZ2 ENST00000371497 human ensembl 74_37 +1 known frame_shift_ins c.2447_2448 p.M819fs 1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 129 0 0 115 24 17.2662 DNAJC5 0 genome.wustl.edu 37 20 62562334 62562334 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 20 62562334 62562334 C - DEL DNAJC5 ENST00000360864 human ensembl 74_37 +1 known frame_shift_del c.452 p.E153fs 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5 HGNC ENSG00000101152 105 0 0 60 17 22.0779 NRIP1 0 genome.wustl.edu 37 21 16338330 16338330 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 21 16338330 16338330 T - DEL NRIP1 ENST00000318948 human ensembl 74_37 -1 known frame_shift_del c.2184 p.E729fs 0.998 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 53 0 0 53 26 32.9114 BACE2 0 genome.wustl.edu 37 21 42540489 42540489 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 21 42540489 42540489 C - DEL BACE2 ENST00000330333 human ensembl 74_37 +1 known frame_shift_del c.299 p.P102fs 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 21 0 0 21 3 12.5 BPIFC 0 genome.wustl.edu 37 22 32831829 32831829 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 32831829 32831829 G - DEL BPIFC ENST00000300399 human ensembl 74_37 -1 known frame_shift_del c.786 p.F263fs 0.148 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 114 0 0 80 22 21.5686 DDX17 0 genome.wustl.edu 37 22 38895455 38895455 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 38895455 38895455 C - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.488 p.G163fs 0.996 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 186 0 0 136 42 23.5955 CELSR1 0 genome.wustl.edu 37 22 46760471 46760471 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 46760471 46760471 G - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.8717 p.P2906fs 0.005 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 107 0 0 61 15 19.7368 ADM2 0 genome.wustl.edu 37 22 50921041 50921041 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 22 50921041 50921041 C - DEL ADM2 ENST00000395737 human ensembl 74_37 +1 known frame_shift_del c.156 p.A54fs 0.000 NULL pfam_Procalcitonin/adrenomedullin - no_errors ADM2 HGNC ENSG00000128165 17 0 0 6 3 33.3333 ZBTB20 0 genome.wustl.edu 37 3 114057967 114057967 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 114057967 114057967 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2111 p.P704fs 0.991 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 96 0 0 79 23 22.549 RNF13 0 genome.wustl.edu 37 3 149678568 149678568 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 149678568 149678568 A - DEL RNF13 ENST00000344229 human ensembl 74_37 +1 known frame_shift_del c.823 p.T277fs 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF13 HGNC ENSG00000082996 83 0 0 91 29 24.1667 ATP13A5 0 genome.wustl.edu 37 3 193028483 193028483 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 193028483 193028483 A - DEL ATP13A5 ENST00000342358 human ensembl 74_37 -1 known frame_shift_del c.2469 p.F823fs 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 40 0 0 65 22 25.2874 RNF168 0 genome.wustl.edu 37 3 196199236 196199237 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 196199236 196199237 - T INS RNF168 ENST00000318037 human ensembl 74_37 -1 known frame_shift_ins c.1170_1169 p.N390fs 0.035:0.034 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 274 0 0 155 60 27.907 GOLGA4 0 genome.wustl.edu 37 3 37367468 37367468 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 37367468 37367468 A - DEL GOLGA4 ENST00000361924 human ensembl 74_37 +1 known frame_shift_del c.4091 p.V1367fs 0.993 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 31 0 0 29 19 39.5833 APEH 0 genome.wustl.edu 37 3 49719319 49719319 + Splice_Site DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 49719319 49719319 G - DEL APEH ENST00000296456 human ensembl 74_37 +1 known splice_site_del c.1523-1 e17-1 1.000 - - - no_errors APEH HGNC ENSG00000164062 223 0 0 154 56 26.6667 MAPKAPK3 0 genome.wustl.edu 37 3 50655080 50655080 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 50655080 50655080 G - DEL MAPKAPK3 ENST00000357955 human ensembl 74_37 +1 known frame_shift_del c.84 p.R31fs 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPKAPK3 HGNC ENSG00000114738 151 0 0 108 9 7.69231 CCDC66 0 genome.wustl.edu 37 3 56600689 56600690 + Frame_Shift_Ins INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 3 56600689 56600690 - A INS CCDC66 ENST00000394672 human ensembl 74_37 +1 known frame_shift_ins c.612_613 p.T206fs 0.062:0.530 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 86 0 0 51 16 23.8806 ANK2 0 genome.wustl.edu 37 4 114278230 114278230 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 114278230 114278230 A - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.8456 p.D2821fs 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 77 0 0 165 21 11.2903 QRFPR 0 genome.wustl.edu 37 4 122250740 122250740 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 122250740 122250740 T - DEL QRFPR ENST00000394427 human ensembl 74_37 -1 known frame_shift_del c.1025 p.N342fs 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_NPY_rcpt,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 67 0 0 48 27 36 KIAA1109 0 genome.wustl.edu 37 4 123165029 123165029 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 123165029 123165029 A - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.4763 p.K1590fs 0.999 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 53 0 0 98 13 11.7117 LRBA 0 genome.wustl.edu 37 4 151774054 151774054 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 151774054 151774054 A - DEL LRBA ENST00000357115 human ensembl 74_37 -1 known frame_shift_del c.2808 p.F936fs 0.992 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 71 0 0 82 10 10.8696 TENM3 0 genome.wustl.edu 37 4 183673077 183673077 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 183673077 183673077 A - DEL TENM3 ENST00000406950 human ensembl 74_37 +1 known frame_shift_del c.3754 p.N1253fs 0.994 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 79 0 0 55 37 40.2174 FAM193A 0 genome.wustl.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 2661592 2661593 - C INS FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_ins c.683_684 p.V231fs 1.000:0.995 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 232 0 0 181 14 7.17949 UGT2A3 0 genome.wustl.edu 37 4 69817137 69817137 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 69817137 69817137 A - DEL UGT2A3 ENST00000251566 human ensembl 74_37 -1 known frame_shift_del c.342 p.F114fs 0.001 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 15 0 0 73 13 15.1163 RUFY3 0 genome.wustl.edu 37 4 71660543 71660546 + Frame_Shift_Del DEL AAAG AAAG - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 71660543 71660546 AAAG - DEL RUFY3 ENST00000381006 human ensembl 74_37 +1 novel frame_shift_del c.1489_1492 p.R499fs 1.000:1.000:1.000:0.999 NULL pfam_Run,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 152 0 0 127 53 29.4444 C4orf22 0 genome.wustl.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 81791254 81791254 A - DEL C4orf22 ENST00000508675 human ensembl 74_37 +1 known frame_shift_del c.492 p.R167fs 0.769 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 166 1 0.598802 145 41 22.043 PLAC8 0 genome.wustl.edu 37 4 84026050 84026050 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 84026050 84026050 G - DEL PLAC8 ENST00000311507 human ensembl 74_37 -1 known frame_shift_del c.242 p.P81fs 1.000 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8 HGNC ENSG00000145287 170 0 0 127 44 25.731 BMPR1B 0 genome.wustl.edu 37 4 96025645 96025646 + Frame_Shift_Ins INS - - C TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 96025645 96025646 - C INS BMPR1B ENST00000440890 human ensembl 74_37 +1 known frame_shift_ins c.160_161 p.R56fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 65 0 0 79 30 27.5229 STPG2 0 genome.wustl.edu 37 4 99027105 99027105 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 4 99027105 99027105 T - DEL STPG2 ENST00000295268 human ensembl 74_37 -1 known frame_shift_del c.611 p.K204fs 1.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 13 0 0 18 6 25 PAM 0 genome.wustl.edu 37 5 102309949 102309949 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 102309949 102309949 A - DEL PAM ENST00000304400 human ensembl 74_37 +1 known frame_shift_del c.1292 p.K433fs 1.000 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 65 0 0 104 37 26.2411 CCDC112 0 genome.wustl.edu 37 5 114606950 114606952 + In_Frame_Del DEL CTT CTT - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 114606950 114606952 CTT - DEL CCDC112 ENST00000379611 human ensembl 74_37 -1 known in_frame_del c.1292_1290 p.R431in_frame_del 1.000:1.000:1.000 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 104 0 0 137 47 25.5435 KIF3A 0 genome.wustl.edu 37 5 132039275 132039276 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 132039275 132039276 - T INS KIF3A ENST00000378735 human ensembl 74_37 -1 known frame_shift_ins c.1274_1273 p.M425fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF3A HGNC ENSG00000131437 40 0 0 35 8 18.6047 GUSBP1 0 genome.wustl.edu 37 5 21462041 21462042 + RNA INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 21462041 21462042 - A INS GUSBP1 ENST00000509649 human ensembl 74_37 +1 known rna NULL NULL 0.025:0.042 - - - no_errors GUSBP1 HGNC ENSG00000183666 25 0 0 13 8 38.0952 IL7R 0 genome.wustl.edu 37 5 35867540 35867541 + Frame_Shift_Ins INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 35867540 35867541 - A INS IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_ins c.354_355 p.I120fs 0.290:0.165 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 76 0 0 105 26 19.8473 SKIV2L2 0 genome.wustl.edu 37 5 54696236 54696236 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 54696236 54696236 A - DEL SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known frame_shift_del c.2468 p.A826fs 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 67 0 0 72 6 7.69231 MIER3 0 genome.wustl.edu 37 5 56233480 56233481 + Frame_Shift_Del DEL GA GA - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 56233480 56233481 GA - DEL MIER3 ENST00000381199 human ensembl 74_37 -1 known frame_shift_del c.361_360 p.Q121fs 1.000:0.775 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 130 0 0 98 44 30.9859 CWC27 0 genome.wustl.edu 37 5 64181326 64181326 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 64181326 64181326 A - DEL CWC27 ENST00000381070 human ensembl 74_37 +1 known frame_shift_del c.995 p.V335fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 20 0 0 23 6 20.6897 ZNF366 0 genome.wustl.edu 37 5 71756154 71756154 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 5 71756154 71756154 G - DEL ZNF366 ENST00000318442 human ensembl 74_37 -1 known frame_shift_del c.1170 p.I391fs 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 56 0 0 38 13 25.4902 KIAA1919 0 genome.wustl.edu 37 6 111587360 111587361 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 111587360 111587361 - T INS KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_ins c.595_596 p.C202fs 0.469:0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 77 0 0 89 6 6.31579 ATXN1 0 genome.wustl.edu 37 6 16328093 16328093 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 16328093 16328093 G - DEL ATXN1 ENST00000244769 human ensembl 74_37 -1 known frame_shift_del c.449 p.P150fs 0.997 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 181 0 0 127 35 21.6049 KIF13A 0 genome.wustl.edu 37 6 17788022 17788023 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 17788022 17788023 - T INS KIF13A ENST00000259711 human ensembl 74_37 -1 known frame_shift_ins c.3346_3345 p.V1115fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 222 0 0 126 63 33.3333 MDC1 0 genome.wustl.edu 37 6 30671005 30671005 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 30671005 30671005 C - DEL MDC1 ENST00000376406 human ensembl 74_37 -1 known frame_shift_del c.5741 p.G1914fs 0.994 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 90 0 0 59 8 11.9403 HLA-B 0 genome.wustl.edu 37 6 31323363 31323363 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 31323363 31323363 G - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.626 p.P209fs 0.142 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 301 0 0 200 51 20.3187 TAP1 0 genome.wustl.edu 37 6 32821048 32821048 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 32821048 32821048 G - DEL TAP1 ENST00000354258 human ensembl 74_37 -1 known frame_shift_del c.546 p.S184fs 0.000 tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 12 0 0 8 3 27.2727 ICK 0 genome.wustl.edu 37 6 52878581 52878581 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 52878581 52878581 G - DEL ICK ENST00000350082 human ensembl 74_37 -1 known frame_shift_del c.1031 p.P344fs 0.195 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 ICK HGNC ENSG00000112144 197 0 0 128 48 27.2727 BAI3 0 genome.wustl.edu 37 6 69348994 69348994 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 69348994 69348994 A - DEL BAI3 ENST00000370598 human ensembl 74_37 +1 known frame_shift_del c.427 p.E146fs 1.000 pfscan_CUB_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 77 0 0 85 40 32 CASP8AP2 0 genome.wustl.edu 37 6 90576391 90576391 + RNA DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 6 90576391 90576391 A - DEL CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 23 0 0 18 7 28 PLOD3 0 genome.wustl.edu 37 7 100855927 100855927 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 100855927 100855927 G - DEL PLOD3 ENST00000223127 human ensembl 74_37 -1 known frame_shift_del c.889 p.R297fs 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 102 0 0 66 10 13.1579 TMEM168 0 genome.wustl.edu 37 7 112424190 112424191 + Frame_Shift_Ins INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 112424190 112424191 - A INS TMEM168 ENST00000312814 human ensembl 74_37 -1 known frame_shift_ins c.691_690 p.I230fs 1.000:1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 106 0 0 135 35 20.5882 TSGA13 0 genome.wustl.edu 37 7 130357652 130357652 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 130357652 130357652 T - DEL TSGA13 ENST00000356588 human ensembl 74_37 -1 known frame_shift_del c.452 p.K151fs 0.011 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 112 0 0 85 26 23.4234 DENND2A 0 genome.wustl.edu 37 7 140273783 140273783 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 140273783 140273783 A - DEL DENND2A ENST00000275884 human ensembl 74_37 -1 known frame_shift_del c.1271 p.F424fs 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 319 0 0 215 77 26.3699 ELMO1 0 genome.wustl.edu 37 7 37355558 37355559 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 37355558 37355559 - T INS ELMO1 ENST00000310758 human ensembl 74_37 -1 known frame_shift_ins c.85_84 p.P28fs 0.998:0.923 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 208 0 0 162 26 13.8298 C7orf63 0 genome.wustl.edu 37 7 89939466 89939466 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 89939466 89939466 A - DEL C7orf63 ENST00000389297 human ensembl 74_37 +1 known frame_shift_del c.2740 p.K915fs 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 88 0 0 131 49 27.2222 PPP1R9A 0 genome.wustl.edu 37 7 94539504 94539504 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 7 94539504 94539504 T - DEL PPP1R9A ENST00000289495 human ensembl 74_37 +1 known frame_shift_del c.79 p.Q28fs 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 51 0 0 58 19 24.6753 MTMR9 0 genome.wustl.edu 37 8 11162509 11162509 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 11162509 11162509 A - DEL MTMR9 ENST00000221086 human ensembl 74_37 +1 known frame_shift_del c.577 p.N195fs 0.997 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 50 0 0 56 18 24.3243 CPSF1 0 genome.wustl.edu 37 8 145620377 145620377 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 145620377 145620377 G - DEL CPSF1 ENST00000349769 human ensembl 74_37 -1 known frame_shift_del c.3208 p.Q1070fs 0.993 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 61 0 0 30 11 26.8293 PRKDC 0 genome.wustl.edu 37 8 48845618 48845618 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 48845618 48845618 C - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.1738 p.D580fs 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 16 0 0 13 10 43.4783 PLAG1 0 genome.wustl.edu 37 8 57078932 57078932 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 57078932 57078932 G - DEL PLAG1 ENST00000316981 human ensembl 74_37 -1 known frame_shift_del c.1373 p.P458fs 0.414 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 161 0 0 248 23 8.48708 MCPH1 0 genome.wustl.edu 37 8 6302639 6302639 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 6302639 6302639 A - DEL MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_del c.1396 p.T468fs 0.010 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 134 0 0 91 31 25.4098 PREX2 0 genome.wustl.edu 37 8 68992721 68992721 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 68992721 68992721 T - DEL PREX2 ENST00000288368 human ensembl 74_37 +1 known frame_shift_del c.1686 p.S565fs 0.015 smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 94 0 0 93 22 19.1304 SLCO5A1 0 genome.wustl.edu 37 8 70617403 70617403 + Frame_Shift_Del DEL T T - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 8 70617403 70617403 T - DEL SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known frame_shift_del c.1485 p.K495fs 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 81 0 0 88 28 24.1379 TCEAL6 0 genome.wustl.edu 37 X 101396280 101396281 + Frame_Shift_Ins INS - - T TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 101396280 101396281 - T INS TCEAL6 ENST00000372773 human ensembl 74_37 -1 known frame_shift_ins c.24_23 p.N8fs 0.103:0.079 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 95 0 0 63 24 27.5862 NKAP 0 genome.wustl.edu 37 X 119072752 119072753 + Frame_Shift_Del DEL TC TC - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 119072752 119072753 TC - DEL NKAP ENST00000371410 human ensembl 74_37 -1 known frame_shift_del c.408_407 p.R136fs 0.996:1.000 NULL pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 248 0 0 180 30 14.2857 FLNA 0 genome.wustl.edu 37 X 153577261 153577261 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 153577261 153577261 C - DEL FLNA ENST00000369850 human ensembl 74_37 -1 known frame_shift_del c.7900 p.D2634fs 0.997 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like 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 FLNA HGNC ENSG00000196924 168 0 0 103 33 24.2647 GYG2 0 genome.wustl.edu 37 X 2779579 2779580 + Frame_Shift_Ins INS - - G TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 2779579 2779580 - G INS GYG2 ENST00000381163 human ensembl 74_37 +1 known frame_shift_ins c.947_948 p.P319fs 0.000:0.000 NULL pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 80 0 0 57 9 13.6364 DMD 0 genome.wustl.edu 37 X 31198546 31198546 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 31198546 31198546 A - DEL DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_del c.10027 p.S3343fs 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ 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 92 0 0 136 42 23.5955 DMD 0 genome.wustl.edu 37 X 32366647 32366648 + Splice_Site INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 32366647 32366648 - A INS DMD ENST00000357033 human ensembl 74_37 -1 known splice_site_ins c.5326-3_5326-2 e38-2 1.000:1.000 - - - no_errors DMD HGNC ENSG00000198947 21 0 0 26 11 29.7297 ALAS2 0 genome.wustl.edu 37 X 55052384 55052384 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 55052384 55052384 C - DEL ALAS2 ENST00000330807 human ensembl 74_37 -1 known frame_shift_del c.50 p.G17fs 0.016 pfam_5aminolev_synth_preseq pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 57 0 0 72 14 16.2791 ZMYM3 0 genome.wustl.edu 37 X 70468355 70468355 + Frame_Shift_Del DEL C C - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 70468355 70468355 C - DEL ZMYM3 ENST00000373988 human ensembl 74_37 -1 known frame_shift_del c.1763 p.G588fs 1.000 pfam_Znf_MYM pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 35 0 0 26 7 21.2121 XIST 0 genome.wustl.edu 37 X 73071979 73071980 + RNA INS - - A TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 73071979 73071980 - A INS XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.349:0.285 - - - no_errors XIST HGNC ENSG00000229807 19 0 0 13 7 35 RPS6KA6 0 genome.wustl.edu 37 X 83352796 83352796 + Frame_Shift_Del DEL A A - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 83352796 83352796 A - DEL RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known frame_shift_del c.1837 p.Y613fs 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 193 0 0 188 56 22.9508 PCDH19 0 genome.wustl.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-CG-4465-01A-01D-1158-08 TCGA-CG-4465-10A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a4d2322-4237-4711-81fa-af35e6172e7a 13f23952-b672-4ba2-a98f-33a96de06f95 X 99662505 99662505 G - DEL PCDH19 ENST00000373034 human ensembl 74_37 -1 known frame_shift_del c.1091 p.P364fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 144 0 0 114 7 5.78512