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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCC5 0 genome.wustl.edu 37 3 183681187 183681187 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 3 183681187 183681187 T C SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known missense c.2221 p.T741A 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC5 HGNC ENSG00000114770 52 0 0.00 43 19 30.16 - - - ACVR1B 0 genome.wustl.edu 37 12 52374849 52374849 + Nonsense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 12 52374849 52374849 G A SNP ACVR1B ENST00000257963 human ensembl 69_37n +1 known nonsense c.677 p.W226* 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors ACVR1B HGNC ENSG00000135503 43 0 0.00 7 35 83.33 - - - ALDH3B1 0 genome.wustl.edu 37 11 67795240 67795240 + RNA SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 11 67795240 67795240 C A SNP ALDH3B1 ENST00000007633 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors ALDH3B1 HGNC ENSG00000006534 33 0 0.00 28 14 33.33 - - - ANKRD30BL 0 genome.wustl.edu 37 2 133015540 133015540 + RNA DEL T T - TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 2 133015540 133015540 T - DEL ANKRD30BL ENST00000470729 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors ANKRD30BL HGNC ENSG00000163046 22 0 0.00 13 3 14.29 - - - APEX1 0 genome.wustl.edu 37 14 20924849 20924849 + Frame_Shift_Del DEL A A - TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 14 20924849 20924849 A - DEL APEX1 ENST00000216714 human ensembl 69_37n +1 known frame_shift_del c.269 p.D90fs 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX1 HGNC ENSG00000100823 29 0 0.00 12 2 14.29 - - - APLF 0 genome.wustl.edu 37 2 68717336 68717336 + Missense_Mutation SNP A A C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 2 68717336 68717336 A C SNP APLF ENST00000303795 human ensembl 69_37n +1 known missense c.111 p.R37S 1.000 superfamily_SMAD_FHA_domain pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain - no_errors APLF HGNC ENSG00000169621 65 0 0.00 74 41 35.65 - - - AQPEP 0 genome.wustl.edu 37 5 115346461 115346461 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 5 115346461 115346461 C G SNP AQPEP ENST00000357872 human ensembl 69_37n +1 known missense c.2117 p.T706R 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LVRN Clone_based_vega_gene ENSG00000172901 71 0 0.00 7 51 87.93 - - - ATP6V1E1 0 genome.wustl.edu 37 22 18077351 18077351 + Missense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 22 18077351 18077351 G A SNP ATP6V1E1 ENST00000253413 human ensembl 69_37n -1 known missense c.562 p.R188C 0.984 pfam_ATPase_V1/A1-cplx_esu pfam_ATPase_V1/A1-cplx_esu - no_errors ATP6V1E1 HGNC ENSG00000131100 31 0 0.00 34 26 43.33 - - - BAIAP3 0 genome.wustl.edu 37 16 1395871 1395871 + Silent SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 16 1395871 1395871 C T SNP BAIAP3 ENST00000324385 human ensembl 69_37n +1 known silent c.2293 p.L765 0.724 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 10 0 0.00 0 7 100.00 - - - BCL6B 0 genome.wustl.edu 37 17 6928049 6928050 + Frame_Shift_Del DEL GT GT - TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 17 6928049 6928050 GT - DEL BCL6B ENST00000293805 human ensembl 69_37n +1 known frame_shift_del c.731_732 p.S244fs 0.972:0.064 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 BCL6B HGNC ENSG00000161940 11 0 0.00 7 4 36.36 - - - C1orf129 0 genome.wustl.edu 37 1 170959084 170959084 + Missense_Mutation SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 170959084 170959084 C A SNP C1orf129 ENST00000367759 human ensembl 69_37n +1 known missense c.968 p.T323K 0.002 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C1orf129 HGNC ENSG00000117501 58 0 0.00 70 26 26.80 - - - C6orf165 0 genome.wustl.edu 37 6 88144769 88144769 + Missense_Mutation SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 6 88144769 88144769 C A SNP C6orf165 ENST00000369562 human ensembl 69_37n +1 known missense c.1492 p.Q498K 1.000 NULL pfam_DUF3508 - no_errors C6orf165 HGNC ENSG00000213204 57 0 0.00 40 44 52.38 - - - CASR 0 genome.wustl.edu 37 3 122002995 122002995 + Missense_Mutation SNP A A G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 3 122002995 122002995 A G SNP CASR ENST00000498619 human ensembl 69_37n +1 known missense c.2224 p.T742A 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 14 0 0.00 2 8 80.00 - - - DDB1 0 genome.wustl.edu 37 11 61071447 61071447 + Missense_Mutation SNP T T G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 11 61071447 61071447 T G SNP DDB1 ENST00000301764 human ensembl 69_37n -1 known missense c.2722 p.N908H 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 75 0 0.00 58 35 37.63 - - - DDX41 0 genome.wustl.edu 37 5 176939348 176939348 + Frame_Shift_Del DEL G G - TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 5 176939348 176939348 G - DEL DDX41 ENST00000507955 human ensembl 69_37n -1 known frame_shift_del c.1596 p.T533fs 0.987 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,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 49 0 0.00 15 2 11.76 - - - DLX6 0 genome.wustl.edu 37 7 96639203 96639203 + Silent SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 7 96639203 96639203 G A SNP DLX6 ENST00000518156 human ensembl 69_37n +1 known silent c.726 p.A242 0.800 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeodomain - no_errors DLX6 HGNC ENSG00000006377 29 0 0.00 17 12 41.38 - - - DNAH14 0 genome.wustl.edu 37 1 225546213 225546213 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 225546213 225546213 C G SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known missense c.11356 p.P3786A 0.920 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 31 0 0.00 40 19 32.20 - - - ECEL1 0 genome.wustl.edu 37 2 233345461 233345461 + Silent SNP T T A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 2 233345461 233345461 T A SNP ECEL1 ENST00000304546 human ensembl 69_37n -1 known silent c.2118 p.T706 0.015 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 27 0 0.00 2 20 90.91 - - - EPHX2 0 genome.wustl.edu 37 8 27369412 27369412 + Missense_Mutation SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 8 27369412 27369412 G C SNP EPHX2 ENST00000521684 human ensembl 69_37n +1 putative missense c.596 p.G199A 0.125 NULL pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EPHX2 HGNC ENSG00000120915 77 0 0.00 64 31 32.63 - - - EPS8 0 genome.wustl.edu 37 12 15803878 15803878 + Missense_Mutation SNP T T A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 12 15803878 15803878 T A SNP EPS8 ENST00000281172 human ensembl 69_37n -1 known missense c.1313 p.E438V 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 82 0 0.00 129 50 27.93 - - - ERCC6 0 genome.wustl.edu 37 10 50681587 50681587 + Missense_Mutation SNP T T G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 10 50681587 50681587 T G SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.2645 p.Y882S 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 82 0 0.00 116 28 19.44 - - - FAM160B2 0 genome.wustl.edu 37 8 21951949 21951949 + Splice_Site SNP A A G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 8 21951949 21951949 A G SNP FAM160B2 ENST00000289921 human ensembl 69_37n +1 known splice_site c.46-2 e2-2 1.000 - - - no_errors FAM160B2 HGNC ENSG00000158863 27 0 0 15 7 31.82 - - - FAM180B 0 genome.wustl.edu 37 11 47608354 47608354 + Missense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 11 47608354 47608354 G A SNP FAM180B ENST00000356737 human ensembl 69_37n +1 known missense c.157 p.V53M 0.000 NULL NULL - no_errors FAM180B HGNC ENSG00000196666 85 0 0.00 45 25 35.71 - - - FAM22D 0 genome.wustl.edu 37 10 89124824 89124824 + Missense_Mutation SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 10 89124824 89124824 G C SNP FAM22D ENST00000381697 human ensembl 69_37n +1 known missense c.1382 p.G461A 0.000 NULL NULL - no_errors FAM22D HGNC ENSG00000214562 82 0 0.00 31 20 39.22 - - - FAM60A 0 genome.wustl.edu 37 12 31435670 31435670 + Silent SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 12 31435670 31435670 C A SNP FAM60A ENST00000337682 human ensembl 69_37n -1 known silent c.642 p.L214 1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 22 0 0.00 26 23 46.94 - - - FAT4 0 genome.wustl.edu 37 4 126369679 126369679 + Missense_Mutation SNP A A G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 4 126369679 126369679 A G SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.7508 p.Y2503C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 37 0 0.00 5 27 84.38 - - - FCN1 0 genome.wustl.edu 37 9 137804958 137804958 + Silent SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 9 137804958 137804958 C T SNP FCN1 ENST00000371806 human ensembl 69_37n -1 known silent c.372 p.R124 0.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FCN1 HGNC ENSG00000085265 30 0 0.00 13 74 85.06 - - - FLG 0 genome.wustl.edu 37 1 152279627 152279627 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 152279627 152279627 C G SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.7735 p.D2579H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 94 0 0.00 152 75 33.04 - - - GJB6 0 genome.wustl.edu 37 13 20797418 20797418 + Missense_Mutation SNP A A T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 13 20797418 20797418 A T SNP GJB6 ENST00000241124 human ensembl 69_37n -1 known missense c.202 p.F68I 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 30 0 0.00 8 14 63.64 - - - GOLGA6A 0 genome.wustl.edu 37 15 74368107 74368107 + Missense_Mutation SNP G G T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 15 74368107 74368107 G T SNP GOLGA6A ENST00000290438 human ensembl 69_37n -1 known missense c.676 p.Q226K 0.154 NULL NULL - no_errors GOLGA6A HGNC ENSG00000159289 8 0 0.00 5 5 50.00 - - - GRK1 0 genome.wustl.edu 37 13 114324074 114324074 + Missense_Mutation SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 13 114324074 114324074 G C SNP GRK1 ENST00000335678 human ensembl 69_37n +1 known missense c.772 p.E258Q 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom - no_errors GRK1 HGNC ENSG00000185974 65 0 0.00 28 43 60.56 - - - GRK1 0 genome.wustl.edu 37 13 114325949 114325949 + Missense_Mutation SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 13 114325949 114325949 G C SNP GRK1 ENST00000335678 human ensembl 69_37n +1 known missense c.963 p.E321D 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom - no_errors GRK1 HGNC ENSG00000185974 16 0 0.00 11 5 31.25 - - - GUCY2D 0 genome.wustl.edu 37 17 7909959 7909959 + Missense_Mutation SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 17 7909959 7909959 C A SNP GUCY2D ENST00000254854 human ensembl 69_37n +1 known missense c.1305 p.H435Q 0.999 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 19 0 0.00 5 4 44.44 - - - HADHB 0 genome.wustl.edu 37 2 26492837 26492837 + Missense_Mutation SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 2 26492837 26492837 C A SNP HADHB ENST00000317799 human ensembl 69_37n +1 known missense c.226 p.P76T 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase - no_errors HADHB HGNC ENSG00000138029 95 0 0.00 101 47 31.76 - - - HDAC1 0 genome.wustl.edu 37 1 32797806 32797807 + Frame_Shift_Del DEL AG AG - TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 32797806 32797807 AG - DEL HDAC1 ENST00000373548 human ensembl 69_37n +1 known frame_shift_del c.1335_1336 p.E446fs 0.995:1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 52 0 0.00 46 28 37.84 - - - HEPH 0 genome.wustl.edu 37 X 65409615 65409615 + Missense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f X 65409615 65409615 G A SNP HEPH ENST00000519389 human ensembl 69_37n +1 known missense c.1060 p.E354K 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 105 0 0.00 60 14 18.92 - - - HJURP 0 genome.wustl.edu 37 2 234750032 234750032 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 2 234750032 234750032 T C SNP HJURP ENST00000411486 human ensembl 69_37n -1 known missense c.1394 p.N465S 0.000 pfam_HJURP_C pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 45 0 0.00 6 26 78.79 - - - HLA-F 0 genome.wustl.edu 37 6 29693318 29693318 + Nonstop_Mutation SNP G G T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 6 29693318 29693318 G T SNP HLA-F ENST00000444621 human ensembl 69_37n +1 known nonstop c.8 p.*3L 0.003 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HLA-F HGNC ENSG00000204642 21 0 0.00 17 12 41.38 - - - HMOX1 0 genome.wustl.edu 37 22 35779123 35779123 + Silent SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 22 35779123 35779123 C T SNP HMOX1 ENST00000216117 human ensembl 69_37n +1 known silent c.48 p.A16 0.999 pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 43 0 0.00 26 22 45.83 - - - HNF4G 0 genome.wustl.edu 37 8 76465339 76465339 + Silent SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 8 76465339 76465339 T C SNP HNF4G ENST00000396423 human ensembl 69_37n +1 known silent c.522 p.G174 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 61 0 0.00 95 37 28.03 - - - HRNR 0 genome.wustl.edu 37 1 152191305 152191305 + Missense_Mutation SNP G G T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 152191305 152191305 G T SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.2800 p.H934N 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 86 0 0.00 107 56 34.36 - - - HSD17B4 0 genome.wustl.edu 37 5 118814681 118814681 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 5 118814681 118814681 C G SNP HSD17B4 ENST00000256216 human ensembl 69_37n +1 known missense c.587 p.A196G 1.000 prints_DHB_DH pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC ENSG00000133835 45 0 0.00 5 15 75.00 - - - KCNC2 0 genome.wustl.edu 37 12 75444928 75444928 + Missense_Mutation SNP T T A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 12 75444928 75444928 T A SNP KCNC2 ENST00000549446 human ensembl 69_37n -1 known missense c.857 p.E286V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 83 0 0.00 52 13 20.00 - - - KIAA1211 0 genome.wustl.edu 37 4 57181137 57181137 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 4 57181137 57181137 C G SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known missense c.1469 p.P490R 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 8 0 0.00 8 4 33.33 - - - LEPRE1 0 genome.wustl.edu 37 1 43220572 43220572 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 43220572 43220572 T C SNP LEPRE1 ENST00000236040 human ensembl 69_37n -1 known missense c.1313 p.E438G 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 72 0 0.00 68 21 23.60 - - - LPXN 0 genome.wustl.edu 37 11 58317469 58317469 + Missense_Mutation SNP A A C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 11 58317469 58317469 A C SNP LPXN ENST00000528954 human ensembl 69_37n -1 known missense c.652 p.Y218D 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors LPXN HGNC ENSG00000110031 35 0 0.00 22 19 46.34 - - - LRRC71 0 genome.wustl.edu 37 1 156901797 156901797 + Silent SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 156901797 156901797 C A SNP LRRC71 ENST00000337428 human ensembl 69_37n +1 known silent c.1419 p.V473 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC ENSG00000160838 56 0 0.00 80 25 23.81 - - - LTBP2 0 genome.wustl.edu 37 14 74967607 74967607 + Frame_Shift_Del DEL G G - TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 14 74967607 74967607 G - DEL LTBP2 ENST00000261978 human ensembl 69_37n -1 known frame_shift_del c.5446 p.H1816fs 0.817 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 21 0 0.00 9 2 18.18 - - - MAP1A 0 genome.wustl.edu 37 15 43821506 43821506 + Missense_Mutation SNP A A C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 15 43821506 43821506 A C SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.7835 p.K2612T 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 21 0 0.00 2 11 84.62 - - - MIR605 0 genome.wustl.edu 37 10 53059335 53059335 + RNA SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 10 53059335 53059335 C G SNP MIR605 ENST00000385078 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors MIR605 HGNC ENSG00000207813 35 0 0.00 27 19 41.30 - - - MRPL9 0 genome.wustl.edu 37 1 151734858 151734858 + Missense_Mutation SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 151734858 151734858 C A SNP MRPL9 ENST00000368830 human ensembl 69_37n -1 known missense c.429 p.E143D 1.000 superfamily_Ribosomal_L9/RNase_H1_N pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N - no_errors MRPL9 HGNC ENSG00000143436 68 0 0.00 97 38 28.15 - - - MUC4 0 genome.wustl.edu 37 3 195515927 195515927 + Missense_Mutation SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 3 195515927 195515927 G C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.2524 p.Q842E 0.006 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 58 0 0.00 57 13 18.57 - - - MYH7B 0 genome.wustl.edu 37 20 33584219 33584219 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 20 33584219 33584219 C G SNP MYH7B ENST00000262873 human ensembl 69_37n +1 novel missense c.3140 p.A1047G 1.000 superfamily_tRNA-bd_arm pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 13 0 0.00 13 14 51.85 - - - MYOCD 0 genome.wustl.edu 37 17 12659782 12659782 + Missense_Mutation SNP A A G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 17 12659782 12659782 A G SNP MYOCD ENST00000425538 human ensembl 69_37n +1 known missense c.2110 p.S704G 0.843 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC ENSG00000141052 22 0 0.00 6 15 71.43 - - - MYOM3 0 genome.wustl.edu 37 1 24400724 24400724 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 24400724 24400724 T C SNP MYOM3 ENST00000330966 human ensembl 69_37n -1 known missense c.2897 p.D966G 0.991 smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 48 0 0.00 24 31 56.36 - - - NCOR1 0 genome.wustl.edu 37 17 15942922 15942922 + Missense_Mutation SNP A A T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 17 15942922 15942922 A T SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known missense c.6780 p.N2260K 0.997 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 42 0 0.00 5 18 78.26 - - - NOTCH4 0 genome.wustl.edu 37 6 32188059 32188059 + Missense_Mutation SNP G G T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 6 32188059 32188059 G T SNP NOTCH4 ENST00000375023 human ensembl 69_37n -1 known missense c.1162 p.L388I 0.964 smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,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_4,prints_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 32 0 0.00 32 9 21.95 - - - NUDT3 0 genome.wustl.edu 37 6 34256620 34256620 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 6 34256620 34256620 C G SNP NUDT3 ENST00000358797 human ensembl 69_37n -1 known missense c.429 p.L143F 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT3 HGNC ENSG00000112664 77 0 0.00 65 52 44.44 - - - OCSTAMP 0 genome.wustl.edu 37 20 45174574 45174574 + Nonsense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 20 45174574 45174574 G A SNP OCSTAMP ENST00000279028 human ensembl 69_37n -1 known nonsense c.439 p.Q147* 0.471 NULL pfam_DC_STAMP-like - no_errors OCSTAMP HGNC ENSG00000149635 18 0 0.00 4 11 73.33 - - - OR4B1 0 genome.wustl.edu 37 11 48238902 48238902 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 11 48238902 48238902 C G SNP OR4B1 ENST00000309562 human ensembl 69_37n +1 known missense c.541 p.P181A 0.002 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4B1 HGNC ENSG00000175619 42 0 0.00 54 28 33.73 - - - PDE4DIP 0 genome.wustl.edu 37 1 144931537 144931537 + Missense_Mutation SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 144931537 144931537 G C SNP PDE4DIP ENST00000313431 human ensembl 69_37n -1 known missense c.172 p.L58V 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 43 0 0.00 47 13 21.67 - - - PIEZO1 0 genome.wustl.edu 37 16 88805107 88805107 + Missense_Mutation SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 16 88805107 88805107 G C SNP PIEZO1 ENST00000301015 human ensembl 69_37n -1 novel missense c.503 p.A168G 0.000 NULL pfam_DUF3595 - no_errors PIEZO1 HGNC ENSG00000103335 17 0 0.00 1 6 85.71 - - - PKD2 0 genome.wustl.edu 37 4 88940608 88940608 + Splice_Site SNP A A C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 4 88940608 88940608 A C SNP PKD2 ENST00000237596 human ensembl 69_37n +1 known splice_site c.596-2 e2-2 0.999 - - - no_errors PKD2 HGNC ENSG00000118762 38 0 0 47 29 38.16 - - - PLCZ1 0 genome.wustl.edu 37 12 18852863 18852863 + Missense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 12 18852863 18852863 G A SNP PLCZ1 ENST00000540270 human ensembl 69_37n -1 known missense c.653 p.S218F 0.017 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLCZ1 HGNC ENSG00000139151 47 0 0.00 38 23 37.70 - - - POTEB 0 genome.wustl.edu 37 15 22077592 22077592 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 15 22077592 22077592 T C SNP POTEB ENST00000439682 human ensembl 69_37n -1 known missense c.638 p.E213G 0.000 pfam_Ankyrin_rpt,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 POTEB HGNC ENSG00000233917 11 0 0.00 0 3 100.00 - - - PRCC 0 genome.wustl.edu 37 1 156737604 156737604 + Missense_Mutation SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 156737604 156737604 C T SNP PRCC ENST00000271526 human ensembl 69_37n +1 known missense c.41 p.P14L 1.000 NULL pfam_PRCC_C - no_errors PRCC HGNC ENSG00000143294 10 0 0.00 9 13 59.09 - - - PRDM7 0 genome.wustl.edu 37 16 90142278 90142278 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 16 90142278 90142278 T C SNP PRDM7 ENST00000449207 human ensembl 69_37n -1 known missense c.41 p.D14G 0.001 NULL pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM7 HGNC ENSG00000126856 60 0 0.00 14 50 78.12 - - - PRR21 0 genome.wustl.edu 37 2 240982243 240982243 + Missense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 2 240982243 240982243 G A SNP PRR21 ENST00000408934 human ensembl 69_37n -1 known missense c.157 p.R53W 0.000 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 180 1 0.55 70 10 12.50 - - - PSMD12 0 genome.wustl.edu 37 17 65340892 65340892 + Missense_Mutation SNP G G T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 17 65340892 65340892 G T SNP PSMD12 ENST00000356126 human ensembl 69_37n -1 known missense c.913 p.L305I 1.000 pfam_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD12 HGNC ENSG00000197170 37 0 0.00 31 23 42.59 - - - QRICH2 0 genome.wustl.edu 37 17 74303558 74303558 + Silent SNP G G T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 17 74303558 74303558 G T SNP QRICH2 ENST00000262765 human ensembl 69_37n -1 known silent c.24 p.L8 0.001 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 11 0 0.00 5 19 79.17 - - - RPTN 0 genome.wustl.edu 37 1 152129003 152129003 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 152129003 152129003 T C SNP RPTN ENST00000316073 human ensembl 69_37n -1 known missense c.572 p.D191G 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors RPTN HGNC ENSG00000215853 121 0 0.00 147 61 29.33 - - - SCN10A 0 genome.wustl.edu 37 3 38802770 38802770 + Nonsense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 3 38802770 38802770 G A SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known nonsense c.796 p.Q266* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 64 0 0.00 6 55 90.16 - - - SEZ6L2 0 genome.wustl.edu 37 16 29899936 29899936 + Frame_Shift_Del DEL G G - TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 16 29899936 29899936 G - DEL SEZ6L2 ENST00000308713 human ensembl 69_37n -1 known frame_shift_del c.964 p.L322fs 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 37 0 0.00 6 18 75.00 - - - SHOC2 0 genome.wustl.edu 37 10 112745470 112745470 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 10 112745470 112745470 T C SNP SHOC2 ENST00000369452 human ensembl 69_37n +1 known missense c.788 p.I263T 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 25 0 0.00 34 6 15.00 - - - SIRT7 0 genome.wustl.edu 37 17 79872224 79872224 + Silent SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 17 79872224 79872224 C G SNP SIRT7 ENST00000328666 human ensembl 69_37n -1 known silent c.762 p.A254 0.542 pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin - no_errors SIRT7 HGNC ENSG00000187531 24 0 0.00 5 6 54.55 - - - SLAMF7 0 genome.wustl.edu 37 1 160718170 160718171 + In_Frame_Ins INS - - TCC TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 160718170 160718171 - TCC INS SLAMF7 ENST00000368043 human ensembl 69_37n +1 known in_frame_ins c.242_243 p.82in_frame_insP 0.038:0.006 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF7 HGNC ENSG00000026751 30 0 0.00 19 25 56.82 - - - SLC22A9 0 genome.wustl.edu 37 11 63138646 63138646 + Missense_Mutation SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 11 63138646 63138646 G A SNP SLC22A9 ENST00000279178 human ensembl 69_37n +1 known missense c.442 p.A148T 0.002 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A9 HGNC ENSG00000149742 84 0 0.00 73 37 33.64 - - - SLC30A1 0 genome.wustl.edu 37 1 211749099 211749099 + Silent SNP A A G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 211749099 211749099 A G SNP SLC30A1 ENST00000367001 human ensembl 69_37n -1 known silent c.1155 p.T385 0.969 pfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 25 0 0.00 42 23 35.38 - - - SLC44A5 0 genome.wustl.edu 37 1 75684372 75684372 + Frame_Shift_Del DEL A A - TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 75684372 75684372 A - DEL SLC44A5 ENST00000370855 human ensembl 69_37n -1 known frame_shift_del c.1332 p.G445fs 0.993 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 24 0 0.00 20 20 50.00 - - - SLC45A2 0 genome.wustl.edu 37 5 33984320 33984320 + Silent SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 5 33984320 33984320 C A SNP SLC45A2 ENST00000296589 human ensembl 69_37n -1 known silent c.369 p.G123 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 38 0 0.00 25 28 52.83 - - - SLITRK3 0 genome.wustl.edu 37 3 164905992 164905992 + Missense_Mutation SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 3 164905992 164905992 C A SNP SLITRK3 ENST00000241274 human ensembl 69_37n -1 known missense c.2627 p.G876V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 31 0 0.00 27 21 43.75 - - - SMCHD1 0 genome.wustl.edu 37 18 2750494 2750494 + Missense_Mutation SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 18 2750494 2750494 G C SNP SMCHD1 ENST00000320876 human ensembl 69_37n +1 known missense c.4154 p.G1385A 0.017 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 39 0 0.00 53 19 26.39 - - - SPO11 0 genome.wustl.edu 37 20 55909042 55909042 + Splice_Site SNP G G A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 20 55909042 55909042 G A SNP SPO11 ENST00000371263 human ensembl 69_37n +1 known splice_site c.402-1 e5-1 1.000 - - - no_errors SPO11 HGNC ENSG00000054796 27 0 0.00 7 14 66.67 - - - STARD10 0 genome.wustl.edu 37 11 72492197 72492197 + Silent SNP G G T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 11 72492197 72492197 G T SNP STARD10 ENST00000334805 human ensembl 69_37n -1 known silent c.30 p.P10 0.058 NULL pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD10 HGNC ENSG00000214530 19 0 0.00 15 16 51.61 - - - TAS2R10 0 genome.wustl.edu 37 12 10978499 10978499 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 12 10978499 10978499 T C SNP TAS2R10 ENST00000240619 human ensembl 69_37n -1 known missense c.370 p.R124G 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 21 0 0.00 16 35 68.63 - - - TCTEX1D1 0 genome.wustl.edu 37 1 67243066 67243066 + Missense_Mutation SNP T T A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 1 67243066 67243066 T A SNP TCTEX1D1 ENST00000282670 human ensembl 69_37n +1 known missense c.469 p.F157I 0.913 pfam_Tctex pfam_Tctex - no_errors TCTEX1D1 HGNC ENSG00000152760 61 0 0.00 50 26 34.21 - - - TMPRSS7 0 genome.wustl.edu 37 3 111795822 111795822 + Silent SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 3 111795822 111795822 C T SNP TMPRSS7 ENST00000419127 human ensembl 69_37n +1 known silent c.1677 p.Y559 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS7 HGNC ENSG00000176040 63 0 0.00 25 37 59.68 - - - TOM1 0 genome.wustl.edu 37 22 35729468 35729468 + Silent SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 22 35729468 35729468 C G SNP TOM1 ENST00000411850 human ensembl 69_37n +1 known silent c.1005 p.L335 0.999 pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 20 0 0.00 16 11 40.74 - - - TRIM7 0 genome.wustl.edu 37 5 180626095 180626095 + Missense_Mutation SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 5 180626095 180626095 C T SNP TRIM7 ENST00000274773 human ensembl 69_37n -1 known missense c.872 p.R291K 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,prints_Znf_B-box_chordata,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM7 HGNC ENSG00000146054 49 0 0.00 7 19 73.08 - - - TRPM2 0 genome.wustl.edu 37 21 45784057 45784057 + Silent SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 21 45784057 45784057 C G SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known silent c.315 p.P105 0.114 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 32 0 0.00 21 8 27.59 - - - USO1 0 genome.wustl.edu 37 4 76708240 76708240 + Missense_Mutation SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 4 76708240 76708240 C T SNP USO1 ENST00000538159 human ensembl 69_37n +1 known missense c.887 p.T296I 0.999 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 62 0 0.00 86 42 32.81 - - - USO1 0 genome.wustl.edu 37 4 76734444 76734444 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 4 76734444 76734444 T C SNP USO1 ENST00000538159 human ensembl 69_37n +1 known missense c.2912 p.I971T 0.000 NULL pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 39 0 0.00 31 45 59.21 - - - WDR87 0 genome.wustl.edu 37 19 38379529 38379529 + Missense_Mutation SNP T T A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 19 38379529 38379529 T A SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.4782 p.E1594D 0.194 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 127 0 0.00 298 69 18.80 - - - WDR87 0 genome.wustl.edu 37 19 38380336 38380336 + Silent SNP G G C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 19 38380336 38380336 G C SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known silent c.3975 p.L1325 0.935 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 83 0 0.00 175 33 15.87 - - - WDR87 0 genome.wustl.edu 37 19 38380480 38380480 + Silent SNP A A G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 19 38380480 38380480 A G SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known silent c.3831 p.D1277 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 96 0 0.00 200 29 12.66 - - - WNK1 0 genome.wustl.edu 37 12 994697 994697 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 12 994697 994697 T C SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known missense c.6221 p.I2074T 0.015 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors WNK1 HGNC ENSG00000060237 38 0 0.00 64 20 23.81 - - - YEATS2 0 genome.wustl.edu 37 3 183436340 183436340 + Missense_Mutation SNP C C G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 3 183436340 183436340 C G SNP YEATS2 ENST00000305135 human ensembl 69_37n +1 known missense c.251 p.A84G 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 60 0 0.00 25 35 58.33 - - - ZBTB32 0 genome.wustl.edu 37 19 36207192 36207192 + Silent SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 19 36207192 36207192 C T SNP ZBTB32 ENST00000262630 human ensembl 69_37n +1 known silent c.1182 p.V394 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB32 HGNC ENSG00000011590 15 0 0.00 20 20 50.00 - - - ZC2HC1C 0 genome.wustl.edu 37 14 75537318 75537318 + Silent SNP C C T TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 14 75537318 75537318 C T SNP ZC2HC1C ENST00000524913 human ensembl 69_37n +1 known silent c.42 p.G14 0.872 NULL NULL - no_errors ZC2HC1C HGNC ENSG00000119703 45 0 0.00 7 15 68.18 - - - ZNF569 0 genome.wustl.edu 37 19 37904029 37904029 + Missense_Mutation SNP T T C TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 19 37904029 37904029 T C SNP ZNF569 ENST00000316950 human ensembl 69_37n -1 known missense c.1531 p.T511A 0.225 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 ZNF569 HGNC ENSG00000196437 39 0 0.00 79 46 36.80 - - - ZNF785 0 genome.wustl.edu 37 16 30593995 30593995 + Missense_Mutation SNP C C A TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 16 30593995 30593995 C A SNP ZNF785 ENST00000395216 human ensembl 69_37n -1 known missense c.1104 p.R368S 0.003 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 ZNF785 HGNC ENSG00000197162 21 0 0.00 5 8 57.14 - - - ZNF99 0 genome.wustl.edu 37 19 22939859 22939859 + Silent SNP A A G TCGA-E9-A22G-01A-11D-A159-09 TCGA-E9-A22G-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2be1b92a-6041-4d2b-9cf8-b9723921987f b88f0c85-3a9c-44fa-a09a-563e6cf8521f 19 22939859 22939859 A G SNP ZNF99 ENST00000397104 human ensembl 69_37n -1 known silent c.2472 p.H824 0.963 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 ZNF99 HGNC ENSG00000213973 52 0 0.00 93 27 22.50 - - -