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 ADRA2C 0 genome.wustl.edu 37 4 3768801 3768801 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 4 3768801 3768801 C T SNP ADRA2C ENST00000330055 human ensembl 74_37 +1 known silent c.468 p.A156 0.945 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2C HGNC ENSG00000184160 tier1 - - 73 0 0.00 27 11 28.95 AHNAK 0 genome.wustl.edu 37 11 62291191 62291191 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 62291191 62291191 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.10698 p.P3566 0.983 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 258 0 0.00 136 54 28.27 AKAP6 0 genome.wustl.edu 37 14 33014440 33014440 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 14 33014440 33014440 G A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.581 p.R194Q 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 117 0 0.00 46 23 33.33 AP4E1 0 genome.wustl.edu 37 15 51221244 51221244 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 15 51221244 51221244 A G SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.581 p.K194R 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 tier1 - - 86 0 0.00 61 8 11.59 APOB 0 genome.wustl.edu 37 2 21228760 21228760 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 21228760 21228760 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.10980 p.D3660 0.001 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 57 0 0.00 43 9 17.31 ARMC2 0 genome.wustl.edu 37 6 109220981 109220981 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 6 109220981 109220981 G A SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known missense c.833 p.R278H 0.866 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 tier1 - - 27 0 0.00 22 4 15.38 ATRN 0 genome.wustl.edu 37 20 3543010 3543010 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 20 3543010 3543010 G A SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.1535 p.R512K 0.149 NULL pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 tier1 - - 163 0 0.00 243 17 6.51 BATF2 0 genome.wustl.edu 37 11 64757255 64757255 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 64757255 64757255 G A SNP BATF2 ENST00000301887 human ensembl 74_37 -1 known silent c.171 p.L57 0.151 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 tier1 - - 38 0 0.00 40 9 18.37 BCAM 0 genome.wustl.edu 37 19 45316790 45316790 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 45316790 45316790 G A SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.697 p.A233T 0.931 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 tier1 - - 62 0 0.00 38 18 31.58 C10orf137 0 genome.wustl.edu 37 10 127424321 127424321 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 10 127424321 127424321 A G SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.1606 p.S536G 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 tier1 - - 96 0 0.00 61 6 8.96 C11orf84 0 genome.wustl.edu 37 11 63586445 63586445 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 63586445 63586445 G A SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known missense c.905 p.G302D 0.001 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 tier1 - - 46 0 0.00 31 12 27.91 C7orf63 0 genome.wustl.edu 37 7 89929259 89929259 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 7 89929259 89929259 G A SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known missense c.1936 p.V646I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 tier1 - - 53 0 0.00 38 7 15.56 CADM1 0 genome.wustl.edu 37 11 115102201 115102201 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 115102201 115102201 C T SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.434 p.R145H 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 tier1 - - 143 0 0.00 58 44 43.14 CATSPERD 0 genome.wustl.edu 37 19 5776311 5776311 + Missense_Mutation SNP T T A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 5776311 5776311 T A SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known missense c.2081 p.V694E 0.939 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 tier1 - - 33 0 0.00 32 4 11.11 CBX6 0 genome.wustl.edu 37 22 39262839 39262839 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 22 39262839 39262839 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.614 p.R205Q 0.997 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 tier1 - - 76 0 0.00 39 20 33.90 CGNL1 0 genome.wustl.edu 37 15 57730382 57730382 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 15 57730382 57730382 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.185 p.R62Q 0.985 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 - - 74 0 0.00 53 14 20.90 CHDC2 0 genome.wustl.edu 37 X 36156550 36156550 + Missense_Mutation SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e X 36156550 36156550 T G SNP CHDC2 ENST00000313548 human ensembl 74_37 +1 known missense c.1229 p.L410R 0.009 pfam_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 tier1 - - 71 0 0.00 29 13 30.95 CLP1 0 genome.wustl.edu 37 11 57428712 57428712 + Missense_Mutation SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 57428712 57428712 T C SNP CLP1 ENST00000525602 human ensembl 74_37 +1 known missense c.1082 p.M361T 1.000 pfam_Pre-mRNA_cleavage_cplxII_Clp1 pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors CLP1 HGNC ENSG00000172409 tier1 - - 91 0 0.00 41 13 24.07 COL7A1 0 genome.wustl.edu 37 3 48618753 48618753 + Silent SNP T T A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 48618753 48618753 T A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.4839 p.G1613 0.996 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 28 0 0.00 15 4 21.05 CWH43 0 genome.wustl.edu 37 4 49046859 49046859 + Silent SNP G G C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 4 49046859 49046859 G C SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known silent c.1860 p.L620 1.000 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 tier1 - - 232 0 0.00 127 11 7.97 DAB2IP 0 genome.wustl.edu 37 9 124519371 124519371 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 9 124519371 124519371 G A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.442 p.D148N 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 49 0 0.00 15 3 16.67 DAPK3 0 genome.wustl.edu 37 19 3961031 3961031 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 3961031 3961031 C T SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known missense c.758 p.R253H 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_LipoPS_kinase,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 DAPK3 HGNC ENSG00000167657 tier1 - - 77 0 0.00 50 9 15.25 DDX4 0 genome.wustl.edu 37 5 55088578 55088578 + Nonsense_Mutation SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 55088578 55088578 C G SNP DDX4 ENST00000505374 human ensembl 74_37 +1 known nonsense c.1412 p.S471* 0.998 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX4 HGNC ENSG00000152670 tier1 - - 64 0 0.00 48 13 21.31 DEAF1 0 genome.wustl.edu 37 11 674690 674690 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 674690 674690 G A SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known missense c.1349 p.P450L 0.271 NULL pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 tier1 - - 120 0 0.00 106 18 14.52 DIRC2 0 genome.wustl.edu 37 3 122552295 122552295 + Splice_Site SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 122552295 122552295 T C SNP DIRC2 ENST00000261038 human ensembl 74_37 +1 known splice_site c.833+2 e4+2 0.993 - - - no_errors DIRC2 HGNC ENSG00000138463 tier1 - - 116 0 0.00 61 35 36.08 DLC1 0 genome.wustl.edu 37 8 13356838 13356838 + Missense_Mutation SNP C C A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 8 13356838 13356838 C A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.743 p.S248I 0.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 279 0 0.00 143 28 16.37 DNAAF3 0 genome.wustl.edu 37 19 55670605 55670605 + Missense_Mutation SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 55670605 55670605 T C SNP DNAAF3 ENST00000527223 human ensembl 74_37 -1 known missense c.1652 p.E551G 0.000 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 tier1 - - 33 0 0.00 29 6 17.14 DNAH3 0 genome.wustl.edu 37 16 21073962 21073962 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 16 21073962 21073962 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.3561 p.S1187 0.945 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 62 0 0.00 30 20 40.00 ECT2L 0 genome.wustl.edu 37 6 139164235 139164235 + Missense_Mutation SNP G G C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 6 139164235 139164235 G C SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known missense c.462 p.W154C 0.995 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 tier1 - - 124 0 0.00 62 17 21.52 EFCAB7 0 genome.wustl.edu 37 1 63999296 63999296 + Missense_Mutation SNP G G C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 63999296 63999296 G C SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known missense c.658 p.D220H 0.799 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 tier1 - - 121 0 0.00 68 15 18.07 ELL2 0 genome.wustl.edu 37 5 95297443 95297445 + RNA DEL GCC GCC - TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 95297443 95297445 GCC - DEL ELL2 ENST00000506628 human ensembl 74_37 -1 known rna NULL NULL 1.000:0.999:0.938 - - - no_errors ELL2 HGNC ENSG00000118985 tier1 9 0 0.00 4 2 33.33 EMP1 0 genome.wustl.edu 37 12 13364426 13364427 + RNA INS - - A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 13364426 13364427 - A INS EMP1 ENST00000542289 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors EMP1 HGNC ENSG00000134531 tier1 145 0 0.00 102 9 8.11 ENSG00000180574 0 genome.wustl.edu 37 12 10658769 10658769 + Missense_Mutation SNP C C A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 10658769 10658769 C A SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known missense c.268 p.Q90K 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 65 0 0.00 46 6 11.54 ENSG00000180574 0 genome.wustl.edu 37 12 10658771 10658771 + Silent SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 10658771 10658771 A G SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.270 p.Q90 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 67 0 0.00 48 6 11.11 ENSG00000180574 0 genome.wustl.edu 37 12 10658875 10658875 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 10658875 10658875 G A SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known missense c.374 p.R125K 0.996 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 rs2230568 - 97 0 0.00 66 6 8.33 ENSG00000180574 0 genome.wustl.edu 37 12 10659014 10659014 + Silent SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 10659014 10659014 T G SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.513 p.S171 0.995 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 176 0 0.00 131 15 10.27 ENSG00000180574 0 genome.wustl.edu 37 12 10659128 10659128 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 10659128 10659128 G A SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.627 p.A209 0.997 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 160 0 0.00 112 11 8.87 ENSG00000180574 0 genome.wustl.edu 37 12 10659176 10659176 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 10659176 10659176 G A SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.675 p.S225 0.989 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 180 0 0.00 120 15 11.11 ENSG00000180574 0 genome.wustl.edu 37 12 10659458 10659458 + Silent SNP T T A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 10659458 10659458 T A SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.957 p.V319 0.955 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 106 0 0.00 53 7 11.67 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154811 + RNA DEL A A - TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 78154811 78154811 A - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 32 0 0.00 29 3 9.38 ENSG00000266560 0 genome.wustl.edu 37 X 151284076 151284076 + RNA SNP G G T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e X 151284076 151284076 G T SNP ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 tier1 - - 46 0 0.00 13 13 50.00 EPB41L1 0 genome.wustl.edu 37 20 34776350 34776350 + Missense_Mutation SNP T T A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 20 34776350 34776350 T A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.955 p.F319I 0.998 pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 tier1 - - 56 0 0.00 78 11 12.36 EPB41L1 0 genome.wustl.edu 37 20 34776351 34776351 + Missense_Mutation SNP T T A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 20 34776351 34776351 T A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.956 p.F319Y 0.999 pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 tier1 - - 56 0 0.00 75 11 12.79 EPB41L1 0 genome.wustl.edu 37 20 34776352 34776352 + Missense_Mutation SNP T T A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 20 34776352 34776352 T A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.957 p.F319L 0.920 pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 tier1 - - 56 0 0.00 77 11 12.50 EPPK1 0 genome.wustl.edu 37 8 144941849 144941849 + Missense_Mutation SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 8 144941849 144941849 T G SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.5573 p.D1858A 0.895 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 tier1 - - 187 0 0.00 102 8 7.27 FAM179B 0 genome.wustl.edu 37 14 45432407 45432407 + Silent SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 14 45432407 45432407 C G SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known silent c.783 p.A261 0.991 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 tier1 - - 95 0 0.00 28 10 26.32 FAM47C 0 genome.wustl.edu 37 X 37027568 37027568 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e X 37027568 37027568 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1085 p.R362H 0.306 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 rs149671724 - 58 0 0.00 42 15 26.32 FMO1 0 genome.wustl.edu 37 1 171254505 171254505 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 171254505 171254505 G A SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known missense c.1421 p.R474H 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 tier1 rs28360433 - 89 0 0.00 53 20 27.40 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74808531 74808531 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 74808531 74808531 G A SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1030 p.A344T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 163 0 0.00 75 33 30.56 FUK 0 genome.wustl.edu 37 16 70502789 70502789 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 16 70502789 70502789 A G SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.797 p.E266G 1.000 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 tier1 - - 174 0 0.00 132 17 11.41 GNPTAB 0 genome.wustl.edu 37 12 102151074 102151074 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 102151074 102151074 C T SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.3350 p.G1117E 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 - - 65 0 0.00 18 6 25.00 GTF2H4 0 genome.wustl.edu 37 6 30881662 30881662 + Missense_Mutation SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 6 30881662 30881662 C G SNP GTF2H4 ENST00000259895 human ensembl 74_37 +1 known missense c.1291 p.L431V 1.000 tigrfam_TFIIH_p52/Tfb2 pfam_TFIIH_p52/Tfb2,tigrfam_TFIIH_p52/Tfb2 - no_errors GTF2H4 HGNC ENSG00000213780 tier1 - - 18 0 0.00 11 9 45.00 HIST1H3F 0 genome.wustl.edu 37 6 26250476 26250476 + Missense_Mutation SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 6 26250476 26250476 T G SNP HIST1H3F ENST00000446824 human ensembl 74_37 -1 known missense c.358 p.I120L 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 tier1 - - 101 0 0.00 72 8 10.00 HNRNPL 0 genome.wustl.edu 37 19 39328080 39328080 + Missense_Mutation SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 39328080 39328080 T C SNP HNRNPL ENST00000221419 human ensembl 74_37 -1 known missense c.1655 p.K552R 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 tier1 - - 72 0 0.00 55 7 11.29 HOXB3 0 genome.wustl.edu 37 17 46629818 46629818 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 17 46629818 46629818 A G SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known missense c.19 p.Y7H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 tier1 - - 46 0 0.00 17 9 34.62 IFT80 0 genome.wustl.edu 37 3 160099334 160099334 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 160099334 160099334 C T SNP IFT80 ENST00000326448 human ensembl 74_37 -1 known silent c.216 p.K72 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT80 HGNC ENSG00000068885 tier1 - - 110 0 0.00 46 45 48.91 IPO7 0 genome.wustl.edu 37 11 9462002 9462002 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 9462002 9462002 A C SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.2696 p.E899A 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 tier1 - - 40 0 0.00 42 6 12.50 ITGB3BP 0 genome.wustl.edu 37 1 63912564 63912564 + RNA SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 63912564 63912564 C G SNP ITGB3BP ENST00000492655 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors ITGB3BP HGNC ENSG00000142856 tier1 - - 27 0 0.00 17 4 19.05 KIAA2022 0 genome.wustl.edu 37 X 73964227 73964227 + Missense_Mutation SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e X 73964227 73964227 T G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.165 p.K55N 0.995 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 10 0 0.00 9 8 47.06 KIF6 0 genome.wustl.edu 37 6 39328204 39328204 + Missense_Mutation SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 6 39328204 39328204 T G SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.2049 p.E683D 0.997 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 77 0 0.00 68 33 32.67 KMT2E 0 genome.wustl.edu 37 7 104716496 104716496 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 7 104716496 104716496 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.736 p.R246C 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 55 0 0.00 26 9 25.71 KRTAP8-1 0 genome.wustl.edu 37 21 32185461 32185461 + Missense_Mutation SNP G G C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 21 32185461 32185461 G C SNP KRTAP8-1 ENST00000329621 human ensembl 74_37 -1 known missense c.78 p.S26R 0.261 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP8-1 HGNC ENSG00000183640 tier1 - - 84 0 0.00 58 6 9.38 LAMA5 0 genome.wustl.edu 37 20 60903969 60903969 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 20 60903969 60903969 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.4378 p.H1460Y 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 63 0 0.00 76 15 16.48 LCP2 0 genome.wustl.edu 37 5 169693852 169693852 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 169693852 169693852 A C SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.732 p.D244E 0.253 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 tier1 - - 211 0 0.00 115 11 8.66 LMOD1 0 genome.wustl.edu 37 1 201868560 201868560 + Frame_Shift_Del DEL T T - TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 201868560 201868560 T - DEL LMOD1 ENST00000367288 human ensembl 74_37 -1 known frame_shift_del c.1581 p.G529fs 0.999 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 tier1 47 0 0.00 35 2 5.41 LOC101243545 0 genome.wustl.edu 37 3 161147240 161147240 + RNA SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 161147240 161147240 G A SNP LOC101243545 ENST00000473595 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-3P17.4 Clone_based_vega_gene ENSG00000240567 tier1 - - 46 0 0.00 36 5 12.20 LTF 0 genome.wustl.edu 37 3 46501208 46501208 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 46501208 46501208 G A SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.145 p.R49C 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 tier1 - - 69 0 0.00 41 13 24.07 MACC1 0 genome.wustl.edu 37 7 20198861 20198861 + Missense_Mutation SNP A A T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 7 20198861 20198861 A T SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.1123 p.Y375N 1.000 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 tier1 - - 87 0 0.00 36 15 29.41 MAGEC1 0 genome.wustl.edu 37 X 140996328 140996328 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e X 140996328 140996328 A C SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.3138 p.K1046N 0.031 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 81 0 0.00 76 33 30.28 MAP3K15 0 genome.wustl.edu 37 X 19425334 19425334 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e X 19425334 19425334 A C SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.1816 p.Y606D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 tier1 - - 54 0 0.00 30 22 42.31 MAP6 0 genome.wustl.edu 37 11 75298480 75298480 + Missense_Mutation SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 75298480 75298480 T G SNP MAP6 ENST00000304771 human ensembl 74_37 -1 known missense c.2066 p.E689A 0.075 NULL pfam_MAP6/FAM154 - no_errors MAP6 HGNC ENSG00000171533 tier1 - - 135 0 0.00 66 22 25.00 MARVELD3 0 genome.wustl.edu 37 16 71674709 71674709 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 16 71674709 71674709 G A SNP MARVELD3 ENST00000299952 human ensembl 74_37 +1 known missense c.1012 p.E338K 1.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 tier1 - - 61 0 0.00 40 11 21.57 MRPL36 0 genome.wustl.edu 37 5 1798960 1798960 + Silent SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 1798960 1798960 T C SNP MRPL36 ENST00000382647 human ensembl 74_37 -1 known silent c.90 p.L30 0.000 NULL pfam_Ribosomal_L36,superfamily_Ribosomal_L36,tigrfam_Ribosomal_L36 - no_errors MRPL36 HGNC ENSG00000171421 tier1 - - 77 0 0.00 61 13 17.57 MYH7 0 genome.wustl.edu 37 14 23894183 23894183 + Missense_Mutation SNP T T A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 14 23894183 23894183 T A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.2474 p.K825M 1.000 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 112 0 0.00 61 10 14.08 MYOCD 0 genome.wustl.edu 37 17 12647645 12647645 + Missense_Mutation SNP G G C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 17 12647645 12647645 G C SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.863 p.R288P 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 49 0 0.00 27 5 15.62 MYOG 0 genome.wustl.edu 37 1 203055020 203055020 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 203055020 203055020 G A SNP MYOG ENST00000241651 human ensembl 74_37 -1 known missense c.70 p.P24S 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOG HGNC ENSG00000122180 tier1 - - 59 0 0.00 39 8 17.02 NCAPD3 0 genome.wustl.edu 37 11 134063917 134063917 + Silent SNP G G T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 134063917 134063917 G T SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known silent c.1818 p.L606 0.809 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 tier1 - - 78 0 0.00 37 5 11.90 NEXN 0 genome.wustl.edu 37 1 78401632 78401632 + Missense_Mutation SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 78401632 78401632 C G SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.1376 p.S459C 1.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 tier1 - - 71 0 0.00 40 6 13.04 NPIPB11 0 genome.wustl.edu 37 16 29394314 29394314 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 16 29394314 29394314 C T SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.1939 p.V647I 0.000 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 60 0 0.00 45 10 18.18 NSA2 0 genome.wustl.edu 37 5 74066624 74066624 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 74066624 74066624 A G SNP NSA2 ENST00000296802 human ensembl 74_37 +1 known missense c.511 p.I171V 1.000 pfam_Ribosomal_S8e/biogenesis_NSA2 pfam_Ribosomal_S8e/biogenesis_NSA2 - no_errors NSA2 HGNC ENSG00000164346 50 0 0.00 26 2 7.14 NTNG1 0 genome.wustl.edu 37 1 107691405 107691405 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 107691405 107691405 A G SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.190 p.K64E 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 tier1 - - 164 0 0.00 67 12 15.19 NUP205 0 genome.wustl.edu 37 7 135303240 135303240 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 7 135303240 135303240 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known silent c.3852 p.E1284 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 tier1 - - 99 0 0.00 84 8 8.70 OR5D14 0 genome.wustl.edu 37 11 55563539 55563539 + Missense_Mutation SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 55563539 55563539 T G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.508 p.F170V 0.265 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 tier1 - - 174 0 0.00 84 39 31.71 OR8K5 0 genome.wustl.edu 37 11 55927393 55927393 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 55927393 55927393 A C SNP OR8K5 ENST00000313447 human ensembl 74_37 -1 known missense c.401 p.V134G 0.006 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K5 HGNC ENSG00000181752 tier1 - - 96 0 0.00 43 8 15.38 PAPPA 0 genome.wustl.edu 37 9 119094664 119094664 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 9 119094664 119094664 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.3314 p.T1105M 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 tier1 - - 97 0 0.00 78 13 14.29 PCDH17 0 genome.wustl.edu 37 13 58207807 58207807 + Missense_Mutation SNP T T A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 13 58207807 58207807 T A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1127 p.V376D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 45 0 0.00 20 14 41.18 PCDHB2 0 genome.wustl.edu 37 5 140475855 140475855 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 140475855 140475855 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.1481 p.P494L 0.320 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 - - 175 0 0.00 59 26 30.59 PCDHGA2 0 genome.wustl.edu 37 5 140720293 140720293 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 140720293 140720293 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.1755 p.G585 0.984 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 172 0 0.00 132 11 7.64 PCDHGA8 0 genome.wustl.edu 37 5 140774056 140774056 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 140774056 140774056 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1676 p.A559V 0.004 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 tier1 - - 194 0 0.00 141 14 9.03 PDE3B 0 genome.wustl.edu 37 11 14793484 14793484 + Missense_Mutation SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 11 14793484 14793484 T C SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.980 p.M327T 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 tier1 - - 78 0 0.00 58 5 7.94 PGS1 0 genome.wustl.edu 37 17 76400045 76400045 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 17 76400045 76400045 G A SNP PGS1 ENST00000262764 human ensembl 74_37 +1 known missense c.1277 p.G426D 0.998 pirsf_PLipase-D_PtdSer-synthase-type pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase - no_errors PGS1 HGNC ENSG00000087157 tier1 - - 83 0 0.00 51 11 17.74 PHYKPL 0 genome.wustl.edu 37 5 177657057 177657057 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 177657057 177657057 C T SNP PHYKPL ENST00000308158 human ensembl 74_37 -1 known silent c.222 p.Q74 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors PHYKPL HGNC ENSG00000175309 tier1 - - 123 0 0.00 75 19 20.21 PIKFYVE 0 genome.wustl.edu 37 2 209207357 209207357 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 209207357 209207357 A G SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.5011 p.I1671V 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 tier1 - - 117 0 0.00 91 10 9.90 PM20D1 0 genome.wustl.edu 37 1 205814572 205814572 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 205814572 205814572 C T SNP PM20D1 ENST00000367136 human ensembl 74_37 -1 known missense c.370 p.A124T 1.000 pfam_Peptidase_M20 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 tier1 - - 82 0 0.00 66 5 7.04 PSG6 0 genome.wustl.edu 37 19 43411955 43411955 + Missense_Mutation SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 43411955 43411955 T C SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.758 p.K253R 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 tier1 - - 249 0 0.00 224 35 13.51 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827753 + Frame_Shift_Del DEL A A - TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 9 125827753 125827753 A - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717 p.K576fs 0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 30 0 0.00 20 4 16.67 RAP1GAP 0 genome.wustl.edu 37 1 21978087 21978088 + RNA DEL AC AC - TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 21978087 21978088 AC - DEL RAP1GAP ENST00000374757 human ensembl 74_37 -1 known rna NULL NULL 0.013:0.018 - - - no_errors RAP1GAP HGNC ENSG00000076864 tier1 9 0 0.00 12 3 20.00 RFC2 0 genome.wustl.edu 37 7 73654326 73654326 + Missense_Mutation SNP G G C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 7 73654326 73654326 G C SNP RFC2 ENST00000055077 human ensembl 74_37 -1 known missense c.635 p.P212R 0.009 superfamily_P-loop_NTPase pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_(+)RNA_virus_helicase_core_dom,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC2 HGNC ENSG00000049541 14 0 0.00 17 2 10.53 RNF10 0 genome.wustl.edu 37 12 120984304 120984304 + Missense_Mutation SNP G G C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 120984304 120984304 G C SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known missense c.254 p.S85T 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 tier1 - - 112 0 0.00 71 15 17.44 RPTN 0 genome.wustl.edu 37 1 152128574 152128574 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 152128574 152128574 G A SNP RPTN ENST00000316073 human ensembl 74_37 -1 known missense c.1001 p.P334L 0.029 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 tier1 - - 822 0 0.00 580 76 11.59 RTN2 0 genome.wustl.edu 37 19 45997874 45997874 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 45997874 45997874 C T SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.469 p.G157R 0.815 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 tier1 - - 65 0 0.00 58 15 20.27 RYR3 0 genome.wustl.edu 37 15 34140622 34140622 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 15 34140622 34140622 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.13628 p.P4543L 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 65 0 0.00 60 11 15.49 SCN10A 0 genome.wustl.edu 37 3 38805071 38805072 + Frame_Shift_Ins INS - - TG TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 38805071 38805072 - TG INS SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_ins c.616_615 p.I205fs 0.003:0.000 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 tier1 83 0 0.00 65 8 10.96 SCN11A 0 genome.wustl.edu 37 3 38949575 38949575 + Silent SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 38949575 38949575 A C SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.1338 p.T446 0.995 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 138 0 0.00 88 9 9.28 SCN5A 0 genome.wustl.edu 37 3 38649647 38649647 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 38649647 38649647 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known silent c.993 p.D331 0.852 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 138 0 0.00 91 14 13.33 SEMA6A 0 genome.wustl.edu 37 5 115783294 115783294 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 5 115783294 115783294 G A SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2159 p.T720I 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 tier1 - - 134 0 0.00 60 16 21.05 SERTAD1 0 genome.wustl.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 40929409 40929411 CTC - DEL SERTAD1 ENST00000357949 human ensembl 74_37 -1 known in_frame_del c.45_43 p.E15in_frame_del 0.888:0.889:0.928 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD1 HGNC ENSG00000197019 tier1 47 0 0.00 42 4 8.70 SIGLEC9 0 genome.wustl.edu 37 19 51629020 51629020 + Silent SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 51629020 51629020 G A SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known silent c.588 p.S196 0.390 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 tier1 rs146360536 - 84 0 0.00 43 5 10.42 SLAMF7 0 genome.wustl.edu 37 1 160720163 160720163 + Missense_Mutation SNP T T G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 160720163 160720163 T G SNP SLAMF7 ENST00000368043 human ensembl 74_37 +1 known missense c.719 p.L240R 0.001 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF7 HGNC ENSG00000026751 tier1 - - 201 0 0.00 136 18 11.69 SLC25A38 0 genome.wustl.edu 37 3 39435988 39435988 + Missense_Mutation SNP C C A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 39435988 39435988 C A SNP SLC25A38 ENST00000273158 human ensembl 74_37 +1 known missense c.713 p.A238E 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 tier1 - - 188 0 0.00 119 11 8.46 SLC39A10 0 genome.wustl.edu 37 2 196581416 196581416 + Silent SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 196581416 196581416 T C SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known silent c.1752 p.D584 0.977 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 tier1 - - 74 0 0.00 60 8 11.59 SLC7A6 0 genome.wustl.edu 37 16 68324429 68324430 + Frame_Shift_Ins INS - - A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 16 68324429 68324430 - A INS SLC7A6 ENST00000219343 human ensembl 74_37 +1 known frame_shift_ins c.780_781 p.N261fs 1.000:1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 tier1 54 0 0.00 29 10 25.64 SMO 0 genome.wustl.edu 37 7 128845063 128845063 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 7 128845063 128845063 A C SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.557 p.K186T 1.000 superfamily_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 tier1 - - 30 0 0.00 33 18 35.29 SMOC1 0 genome.wustl.edu 37 14 70490004 70490004 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 14 70490004 70490004 C T SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known silent c.1131 p.N377 0.000 pfam_SPARC/Testican_Ca-bd-dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 tier1 - - 72 0 0.00 25 20 44.44 SOS1 0 genome.wustl.edu 37 2 39285941 39285941 + Missense_Mutation SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 39285941 39285941 C G SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.218 p.R73P 1.000 superfamily_Histone-fold pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 tier1 - - 63 0 0.00 41 9 18.00 SPTBN1 0 genome.wustl.edu 37 2 54856335 54856335 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 54856335 54856335 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known silent c.2064 p.S688 0.878 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 tier1 - - 64 0 0.00 41 5 10.87 SRGAP3 0 genome.wustl.edu 37 3 9100117 9100117 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 9100117 9100117 A C SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.841 p.F281V 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 106 0 0.00 80 7 8.05 TANC1 0 genome.wustl.edu 37 2 160074022 160074022 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 160074022 160074022 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.3259 p.A1087T 0.996 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt 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 TANC1 HGNC ENSG00000115183 tier1 - - 159 0 0.00 112 15 11.81 TCHH 0 genome.wustl.edu 37 1 152081443 152081443 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 152081443 152081443 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.4250 p.R1417H 0.080 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 174 0 0.00 64 64 50.00 TLE1 0 genome.wustl.edu 37 9 84268917 84268917 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 9 84268917 84268917 G A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.269 p.A90V 1.000 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 tier1 - - 66 0 0.00 41 6 12.50 TMEM38B 0 genome.wustl.edu 37 9 108483827 108483828 + Frame_Shift_Ins INS - - T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 9 108483827 108483828 - T INS TMEM38B ENST00000374692 human ensembl 74_37 +1 known frame_shift_ins c.279_280 p.C95fs 0.034:0.996 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38B HGNC ENSG00000095209 tier1 59 0 0.00 55 11 16.67 TNS1 0 genome.wustl.edu 37 2 218683458 218683458 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 218683458 218683458 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.3285 p.S1095 0.003 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 54 0 0.00 46 17 26.98 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934576 GMAF=0.0005 16 0 0.00 11 6 35.29 TRIM17 0 genome.wustl.edu 37 1 228602404 228602404 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 228602404 228602404 A G SNP TRIM17 ENST00000295033 human ensembl 74_37 -1 known missense c.370 p.S124P 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 tier1 - - 49 0 0.00 60 6 9.09 TRO 0 genome.wustl.edu 37 X 54950059 54950059 + Missense_Mutation SNP A A G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e X 54950059 54950059 A G SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.1094 p.Q365R 0.042 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 tier1 - - 16 0 0.00 8 4 33.33 TROAP 0 genome.wustl.edu 37 12 49724683 49724683 + Frame_Shift_Del DEL T T - TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 12 49724683 49724683 T - DEL TROAP ENST00000257909 human ensembl 74_37 +1 known frame_shift_del c.2055 p.I686fs 0.066 NULL NULL - no_errors TROAP HGNC ENSG00000135451 tier1 145 0 0.00 98 44 30.99 TRRAP 0 genome.wustl.edu 37 7 98609747 98609747 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 7 98609747 98609747 A C SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.11349 p.K3783N 0.880 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 41 0 0.00 57 7 10.94 TSACC 0 genome.wustl.edu 37 1 156314403 156314403 + Missense_Mutation SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 156314403 156314403 C G SNP TSACC ENST00000368251 human ensembl 74_37 +1 known missense c.67 p.L23V 1.000 NULL NULL - no_errors TSACC HGNC ENSG00000163467 tier1 - - 113 0 0.00 99 11 10.00 UPK3A 0 genome.wustl.edu 37 22 45691480 45691480 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 22 45691480 45691480 C T SNP UPK3A ENST00000216211 human ensembl 74_37 +1 known silent c.744 p.S248 0.998 NULL NULL - no_errors UPK3A HGNC ENSG00000100373 tier1 - - 118 0 0.00 63 26 29.21 UROC1 0 genome.wustl.edu 37 3 126220082 126220082 + Missense_Mutation SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 126220082 126220082 T C SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.944 p.H315R 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 tier1 - - 281 0 0.00 197 22 10.05 USP34 0 genome.wustl.edu 37 2 61522155 61522155 + Missense_Mutation SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 61522155 61522155 C G SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.4390 p.D1464H 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 tier1 - - 59 0 0.00 44 11 20.00 USP48 0 genome.wustl.edu 37 1 22033386 22033386 + Frame_Shift_Del DEL A A - TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 22033386 22033386 A - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975 p.S659fs 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 39 0 0.00 34 3 8.11 VDAC3 0 genome.wustl.edu 37 8 42256279 42256279 + Missense_Mutation SNP G G T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 8 42256279 42256279 G T SNP VDAC3 ENST00000392935 human ensembl 74_37 +1 known missense c.170 p.G57V 1.000 pfam_Porin_Euk/Tom40 pfam_Porin_Euk/Tom40,prints_Porin_Euk - no_errors VDAC3 HGNC ENSG00000078668 91 0 0.00 50 4 7.41 WNT3A 0 genome.wustl.edu 37 1 228246735 228246735 + Missense_Mutation SNP G G A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 1 228246735 228246735 G A SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known missense c.628 p.G210S 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 tier1 - - 38 0 0.00 24 8 25.00 XRCC5 0 genome.wustl.edu 37 2 216992348 216992348 + Missense_Mutation SNP C C G TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 2 216992348 216992348 C G SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known missense c.888 p.C296W 1.000 pfam_Ku70/Ku80_beta-barrel_dom,superfamily_SPOC_like_C_dom pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 tier1 - - 46 0 0.00 48 7 12.73 ZNF235 0 genome.wustl.edu 37 19 44792464 44792464 + Missense_Mutation SNP T T C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 44792464 44792464 T C SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known missense c.1124 p.Y375C 0.599 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 ZNF235 HGNC ENSG00000159917 tier1 - - 47 0 0.00 32 11 25.58 ZNF257 0 genome.wustl.edu 37 19 22270805 22270805 + Missense_Mutation SNP C C A TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 19 22270805 22270805 C A SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.253 p.L85I 0.100 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 ZNF257 HGNC ENSG00000197134 tier1 - - 47 0 0.00 19 6 24.00 ZNF385D 0 genome.wustl.edu 37 3 21465499 21465499 + Missense_Mutation SNP A A C TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 3 21465499 21465499 A C SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.910 p.Y304D 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 155 0 0.00 62 7 10.14 ZNF451 0 genome.wustl.edu 37 6 57012446 57012446 + Silent SNP C C T TCGA-VQ-A8E2-01A-11D-A364-08 TCGA-VQ-A8E2-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 830888e7-ffcf-4145-92a1-8f649723c95e 57e6bffa-d7af-4d32-92b1-0a51b931434e 6 57012446 57012446 C T SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known silent c.1563 p.H521 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 tier1 rs143799111 - 208 0 0.00 145 12 7.64