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 HRNR 0 genome.wustl.edu 37 1 152192589 152192589 + Nonsense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 152192589 152192589 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known nonsense c.1516 p.R506* 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 431 0 0 271 183 40.3084 ARHGEF11 0 genome.wustl.edu 37 1 156909511 156909511 + Missense_Mutation SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 156909511 156909511 C T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.3925 p.G1309R 0.004 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 66 0 0 21 20 48.7805 ARHGAP30 0 genome.wustl.edu 37 1 161018192 161018192 + Silent SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 161018192 161018192 G A SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known silent c.2619 p.D873 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 124 0 0 84 41 32.8 FMO2 0 genome.wustl.edu 37 1 171162660 171162660 + Missense_Mutation SNP C C A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 171162660 171162660 C A SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.319 p.Q107K 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 35 0 0 35 3 7.89474 HMCN1 0 genome.wustl.edu 37 1 186057138 186057138 + Missense_Mutation SNP T T A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 186057138 186057138 T A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.9438 p.N3146K 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 51 0 0 63 7 10 CACNA1S 0 genome.wustl.edu 37 1 201023635 201023635 + Missense_Mutation SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 201023635 201023635 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.3664 p.V1222I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 35 0 0 29 5 14.7059 PIK3C2B 0 genome.wustl.edu 37 1 204429064 204429064 + Missense_Mutation SNP G G C TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 204429064 204429064 G C SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.1508 p.A503G 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 31 0 0 16 4 20 TARBP1 0 genome.wustl.edu 37 1 234536986 234536986 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 234536986 234536986 G A SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel missense c.4012 p.R1338C 0.617 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 34 0 0 10 11 52.381 MATN1 0 genome.wustl.edu 37 1 31188944 31188944 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 1 31188944 31188944 G A SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.1019 p.A340V 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 139 0 0 18 59 76.6234 CHUK 0 genome.wustl.edu 37 10 101979084 101979084 + Silent SNP G G C TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 10 101979084 101979084 G C SNP CHUK ENST00000370397 human ensembl 74_37 -1 known silent c.507 p.A169 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_IKKbetaNEMObind,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 CHUK HGNC ENSG00000213341 61 0 0 55 28 33.7349 ANKRD30A 0 genome.wustl.edu 37 10 37431066 37431066 + Missense_Mutation SNP C C A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 10 37431066 37431066 C A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.1073 p.P358H 0.038 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 116 0 0 79 44 35.7724 OR5W2 0 genome.wustl.edu 37 11 55681260 55681260 + Missense_Mutation SNP A A T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 11 55681260 55681260 A T SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.799 p.S267T 0.287 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 87 0 0 86 7 7.52688 OR5M1 0 genome.wustl.edu 37 11 56380308 56380308 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 11 56380308 56380308 G A SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.671 p.A224V 0.127 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 OR5M1 HGNC ENSG00000255012 79 0 0 42 36 46.1538 OR9G1 0 genome.wustl.edu 37 11 56467944 56467944 + Missense_Mutation SNP C C A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 11 56467944 56467944 C A SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known missense c.81 p.F27L 0.004 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 105 0 0 82 14 14.5833 ZP1 0 genome.wustl.edu 37 11 60641001 60641001 + Missense_Mutation SNP C C A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 11 60641001 60641001 C A SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known missense c.1394 p.P465H 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 107 0 0 63 43 40.566 NRXN2 0 genome.wustl.edu 37 11 64375009 64375009 + Missense_Mutation SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 11 64375009 64375009 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.4798 p.V1600M 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 12 0 0 5 6 54.5455 CNTN5 0 genome.wustl.edu 37 11 99872816 99872816 + Missense_Mutation SNP G G T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 11 99872816 99872816 G T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.928 p.V310F 0.997 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 19 0 0 8 10 55.5556 PIWIL1 0 genome.wustl.edu 37 12 130841471 130841471 + Nonsense_Mutation SNP C C A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 12 130841471 130841471 C A SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known nonsense c.1413 p.Y471* 1.000 superfamily_RNaseH-like_dom pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 54 0 0 33 14 29.7872 DACH1 0 genome.wustl.edu 37 13 72440210 72440210 + Missense_Mutation SNP G G T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 13 72440210 72440210 G T SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known missense c.698 p.T233N 1.000 pfam_Transform_Ski,superfamily_DNA-bd_dom_put pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 113 0 0 96 20 17.2414 RTN1 0 genome.wustl.edu 37 14 60194301 60194301 + Silent SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 14 60194301 60194301 C T SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.1101 p.S367 0.006 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 19 0 0 10 3 23.0769 HIF1A 0 genome.wustl.edu 37 14 62207881 62207881 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 14 62207881 62207881 G A SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known missense c.2140 p.V714M 0.810 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 37 0 0 4 18 81.8182 DUOX1 0 genome.wustl.edu 37 15 45444704 45444704 + Silent SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 15 45444704 45444704 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.3414 p.I1138 0.994 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 52 0 0 9 23 71.875 NTRK3 0 genome.wustl.edu 37 15 88576112 88576112 + Missense_Mutation SNP G G T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 15 88576112 88576112 G T SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.1561 p.H521N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 49 0 0 28 17 37.7778 CLCN7 0 genome.wustl.edu 37 16 1510888 1510888 + Missense_Mutation SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 16 1510888 1510888 C T SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.413 p.G138D 1.000 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 62 0 0 42 3 6.66667 ZNF500 0 genome.wustl.edu 37 16 4802555 4802555 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 16 4802555 4802555 G A SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known missense c.1265 p.S422L 0.390 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 8 0 0 1 2 66.6667 ZNF821 0 genome.wustl.edu 37 16 71894501 71894501 + Missense_Mutation SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 16 71894501 71894501 C T SNP ZNF821 ENST00000425432 human ensembl 74_37 -1 known missense c.659 p.G220E 0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF821 HGNC ENSG00000102984 132 0 0 65 7 9.72222 MYO1C 0 genome.wustl.edu 37 17 1383891 1383891 + Missense_Mutation SNP T T C TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 17 1383891 1383891 T C SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.836 p.N279S 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 151 0 0 61 22 26.506 HS3ST3B1 0 genome.wustl.edu 37 17 14204920 14204920 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 17 14204920 14204920 G A SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known missense c.85 p.V29M 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 46 0 0 21 24 53.3333 PLD2 0 genome.wustl.edu 37 17 4721623 4721623 + Missense_Mutation SNP G G T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 17 4721623 4721623 G T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.1952 p.R651L 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 96 0 0 54 9 14.2857 TANC2 0 genome.wustl.edu 37 17 61497864 61497864 + Silent SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 17 61497864 61497864 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known silent c.4521 p.P1507 0.193 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 57 0 0 45 5 10 SPHK1 0 genome.wustl.edu 37 17 74382134 74382134 + Missense_Mutation SNP A A G TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 17 74382134 74382134 A G SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known missense c.337 p.K113E 0.998 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 38 0 0 16 18 52.9412 UPF1 0 genome.wustl.edu 37 19 18966037 18966037 + Silent SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 19 18966037 18966037 C T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known silent c.1563 p.A521 0.294 pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 46 0 0 29 22 43.1373 PLEKHG2 0 genome.wustl.edu 37 19 39912813 39912813 + Missense_Mutation SNP C C G TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 19 39912813 39912813 C G SNP PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known missense c.1562 p.S521C 0.652 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 36 0 0 17 6 26.087 TGFB1 0 genome.wustl.edu 37 19 41847896 41847896 + Missense_Mutation SNP T T G TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 19 41847896 41847896 T G SNP TGFB1 ENST00000221930 human ensembl 74_37 -1 known missense c.752 p.H251P 0.028 pfam_TGF-b_N,pirsf_TGF-beta pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_TGFb1,prints_TGF-beta - no_errors TGFB1 HGNC ENSG00000105329 40 0 0 36 8 18.1818 PPFIA3 0 genome.wustl.edu 37 19 49637939 49637939 + Missense_Mutation SNP A A G TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 19 49637939 49637939 A G SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.1421 p.D474G 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 174 0 0 135 11 7.53425 SIGLEC7 0 genome.wustl.edu 37 19 51656357 51656357 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 19 51656357 51656357 G A SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known missense c.1259 p.R420Q 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 223 0 0 112 70 38.4615 LILRA2 0 genome.wustl.edu 37 19 55086410 55086410 + Missense_Mutation SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 19 55086410 55086410 C T SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known missense c.565 p.R189C 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 197 0 0 85 76 47.205 NLRP8 0 genome.wustl.edu 37 19 56467135 56467135 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 19 56467135 56467135 G A SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1711 p.V571M 0.001 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 53 0 0 53 6 10.1695 TTC21B 0 genome.wustl.edu 37 2 166802093 166802093 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 2 166802093 166802093 G A SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.370 p.H124Y 0.569 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 52 0 0 28 26 48.1481 TYW5 0 genome.wustl.edu 37 2 200797977 200797977 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 2 200797977 200797977 G A SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known missense c.761 p.P254L 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 86 0 0 89 52 36.8794 MDH1B 0 genome.wustl.edu 37 2 207619947 207619947 + Silent SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 2 207619947 207619947 C T SNP MDH1B ENST00000374412 human ensembl 74_37 -1 known silent c.696 p.R232 0.001 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 43 0 0 29 28 49.1228 ADRM1 0 genome.wustl.edu 37 20 60883474 60883474 + Silent SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 20 60883474 60883474 C T SNP ADRM1 ENST00000253003 human ensembl 74_37 +1 known silent c.1065 p.L355 1.000 pfam_26S_Psome_Ubiquitin-recp_Rpn13 pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 39 0 0 12 14 53.8462 BOC 0 genome.wustl.edu 37 3 112993272 112993272 + Missense_Mutation SNP C C A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 3 112993272 112993272 C A SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.1285 p.P429T 0.140 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 90 0 0 36 2 5.26316 SNORA58 0 genome.wustl.edu 37 3 131197966 131197966 + RNA SNP C C G TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 3 131197966 131197966 C G SNP SNORA58 ENST00000505219 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors SNORA58 HGNC ENSG00000249020 46 0 0 6 10 62.5 SDHAP1 0 genome.wustl.edu 37 3 195706728 195706728 + RNA SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 3 195706728 195706728 C T SNP SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 19 0 0 33 3 8.33333 ERC2 0 genome.wustl.edu 37 3 56468846 56468846 + Silent SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 3 56468846 56468846 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known silent c.190 p.L64 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 157 0 0 85 65 43.3333 ENSG00000201264 0 genome.wustl.edu 37 4 152023242 152023242 + RNA SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 4 152023242 152023242 G A SNP ENSG00000201264 ENST00000364394 human ensembl 74_37 +1 novel rna NULL NULL 0.956 - - - no_errors SNORD73 RFAM ENSG00000201264 52 0 0 21 30 58.8235 KIF4B 0 genome.wustl.edu 37 5 154394974 154394974 + Missense_Mutation SNP C C A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 5 154394974 154394974 C A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.1555 p.Q519K 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 119 0 0 67 37 35.5769 NKX2-5 0 genome.wustl.edu 37 5 172661792 172661792 + Missense_Mutation SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 5 172661792 172661792 C T SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known missense c.295 p.D99N 0.988 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 32 0 0 26 16 38.0952 HIST1H3E 0 genome.wustl.edu 37 6 26225435 26225435 + Missense_Mutation SNP G G T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 6 26225435 26225435 G T SNP HIST1H3E ENST00000360408 human ensembl 74_37 +1 known missense c.53 p.R18L 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 110 0 0 21 50 70.4225 CCHCR1 0 genome.wustl.edu 37 6 31124558 31124558 + Missense_Mutation SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 6 31124558 31124558 C T SNP CCHCR1 ENST00000396268 human ensembl 74_37 -1 known missense c.447 p.M149I 0.066 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 165 0 0 36 76 67.8571 MYO6 0 genome.wustl.edu 37 6 76623819 76623819 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 6 76623819 76623819 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.3482 p.R1161Q 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 107 0 0 90 44 32.8358 CASP8AP2 0 genome.wustl.edu 37 6 90576103 90576103 + RNA SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 6 90576103 90576103 C T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors CASP8AP2 HGNC ENSG00000118412 18 0 0 13 7 35 NME8 0 genome.wustl.edu 37 7 37890317 37890317 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 7 37890317 37890317 G A SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.178 p.E60K 0.909 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 107 0 0 52 42 44.6809 GLI3 0 genome.wustl.edu 37 7 42005045 42005045 + Missense_Mutation SNP G G T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 7 42005045 42005045 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3626 p.P1209H 0.026 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 90 0 0 44 32 42.1053 PREX2 0 genome.wustl.edu 37 8 69002905 69002905 + Silent SNP C C T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 8 69002905 69002905 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.2205 p.V735 0.879 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 72 0 0 55 38 40.8602 CNBD1 0 genome.wustl.edu 37 8 87917328 87917328 + Missense_Mutation SNP T T G TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 8 87917328 87917328 T G SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.178 p.L60V 0.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 23 0 0 14 10 41.6667 MLLT3 0 genome.wustl.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 9 20414379 20414379 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.465 p.S155 0.991 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 45 0 0 23 4 14.8148 CCNB3 0 genome.wustl.edu 37 X 50056925 50056925 + Missense_Mutation SNP G G T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b X 50056925 50056925 G T SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3493 p.V1165L 0.992 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 63 0 0 55 35 38.8889 ITIH6 0 genome.wustl.edu 37 X 54817436 54817436 + Silent SNP T T C TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b X 54817436 54817436 T C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known silent c.450 p.E150 0.996 pfam_VIT,smart_VIT pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 55 0 0 29 9 23.6842 VCX3A 0 genome.wustl.edu 37 X 6451825 6451825 + Silent SNP C C A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b X 6451825 6451825 C A SNP VCX3A ENST00000381089 human ensembl 74_37 -1 known silent c.522 p.L174 0.003 NULL NULL - no_errors VCX3A HGNC ENSG00000169059 504 0 0 345 76 18.0523 ZCCHC13 0 genome.wustl.edu 37 X 73524418 73524418 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b X 73524418 73524418 G A SNP ZCCHC13 ENST00000339534 human ensembl 74_37 +1 known missense c.317 p.R106H 0.004 superfamily_Znf_CCHC,smart_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ENSG00000187969 109 0 0 29 37 56.0606 VCX 0 genome.wustl.edu 37 X 7812018 7812018 + Silent SNP G G T TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b X 7812018 7812018 G T SNP VCX ENST00000381059 human ensembl 74_37 +1 known silent c.582 p.P194 0.001 NULL NULL - no_errors VCX HGNC ENSG00000182583 291 0 0 251 34 11.9298 RPS6KA6 0 genome.wustl.edu 37 X 83319320 83319320 + Missense_Mutation SNP G G A TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b X 83319320 83319320 G A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.2203 p.R735W 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II 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 15 0 0 5 6 54.5455 USP54 0 genome.wustl.edu 37 10 75290191 75290194 + Frame_Shift_Del DEL CTGA CTGA - TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 CTGA CTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 10 75290191 75290194 CTGA - DEL USP54 ENST00000339859 human ensembl 74_37 -1 known frame_shift_del c.1538_1535 p.V512fs 1.000:1.000:1.000:1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 93 0 0 41 34 45.3333 FPR3 0 genome.wustl.edu 37 19 52327718 52327734 + Frame_Shift_Del DEL CTTACGTGTCTTCGCTG CTTACGTGTCTTCGCTG - TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 CTTACGTGTCTTCGCTG CTTACGTGTCTTCGCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 19 52327718 52327734 CTTACGTGTCTTCGCTG - DEL FPR3 ENST00000339223 human ensembl 74_37 +1 known frame_shift_del c.717_733 p.L240fs 0.949:0.963:0.956:0.450:0.232:0.144:0.145:0.412:0.990:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 60 0 0 26 11 29.7297 PPM1F 0 genome.wustl.edu 37 22 22285641 22285675 + Frame_Shift_Del DEL CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG - TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 22 22285641 22285675 CCTGTGGTGCCGCTCTGCAGCCGCTGCAGGGAGAG - DEL PPM1F ENST00000263212 human ensembl 74_37 -1 known frame_shift_del c.770_748 p.R250fs 1.000:1.000:0.001:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:0.535:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 32 0 0 3 4 57.1429 CSF1R 0 genome.wustl.edu 37 5 149437078 149437078 + Frame_Shift_Del DEL A A - TCGA-D7-6519-01A-11D-1800-08 TCGA-D7-6519-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2e67393-50d7-4bcc-9bbd-c695086a936a fb2d7620-ef06-4044-a50d-5bb868e8642b 5 149437078 149437078 A - DEL CSF1R ENST00000286301 human ensembl 74_37 -1 known frame_shift_del c.2210 p.F737fs 0.912 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_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 CSF1R HGNC ENSG00000182578 109 0 0 88 35 28.4553